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31 results on '"Rump, Patrick"'

1. Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family

Author

AIOS Psychiatrie, Genetica, Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, de Haan, Amber, van Eerde, Albertien M., Eijgelsheim, Mark, Rump, Patrick, van der Zwaag, Bert, Hennekam, Eric, Živná, Martina, Kmoch, Stanislav, Bleyer, Anthony J., Kidd, Kendrah, Vogt, Liffert, Knoers, Nine V.A.M., de Borst, Martin H., AIOS Psychiatrie, Genetica, Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, de Haan, Amber, van Eerde, Albertien M., Eijgelsheim, Mark, Rump, Patrick, van der Zwaag, Bert, Hennekam, Eric, Živná, Martina, Kmoch, Stanislav, Bleyer, Anthony J., Kidd, Kendrah, Vogt, Liffert, Knoers, Nine V.A.M., and de Borst, Martin H.

Published
2023

2. NOVEL MUC1 VARIANT IDENTIFIED BY MASSIVELY PARALLEL SEQUENCING EXPLAINS INTERSTITIAL KIDNEY DISEASE IN A LARGE DUTCH FAMILY

Author

Genetica Sectie Genoomdiagnostiek, Child Health, Genetica Klinische Genetica, Cancer, Genetica, de Haan, Amber, Eijgelsheim, Mark, Rump, Patrick, Van der Zwaag, Bert, Zivna, Martina, Kmoch, Stanislav, Bleyer, Anthony, Kidd, Kendrah, Van Eerde, Albertien M., Knoers, Nine, De Borst, Martin, Genetica Sectie Genoomdiagnostiek, Child Health, Genetica Klinische Genetica, Cancer, Genetica, de Haan, Amber, Eijgelsheim, Mark, Rump, Patrick, Van der Zwaag, Bert, Zivna, Martina, Kmoch, Stanislav, Bleyer, Anthony, Kidd, Kendrah, Van Eerde, Albertien M., Knoers, Nine, and De Borst, Martin

Published
2022

3. Changes in empowerment and anxiety of patients and parents during genetic counselling for epilepsy

Author

Arts-assistenten Kinderen, Genetica Klinische Genetica, Brain, Genetica, Vlaskamp, Danique R M, Rump, Patrick, Callenbach, Petra M C, Brilstra, Eva H, Velthuizen, Mary E, Brouwer, Oebele F, Ranchor, Adelita V, van Ravenswaaij-Arts, Conny M A, Arts-assistenten Kinderen, Genetica Klinische Genetica, Brain, Genetica, Vlaskamp, Danique R M, Rump, Patrick, Callenbach, Petra M C, Brilstra, Eva H, Velthuizen, Mary E, Brouwer, Oebele F, Ranchor, Adelita V, and van Ravenswaaij-Arts, Conny M A

Published
2021

4. Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Author

Zawerton, Ash, Zawerton, Ash, Mignot, Cyril, Sigafoos, Ashley, Blackburn, Patrick R, Haseeb, Abdul, McWalter, Kirsty, Ichikawa, Shoji, Nava, Caroline, Keren, Boris, Charles, Perrine, Marey, Isabelle, Tabet, Anne-Claude, Levy, Jonathan, Perrin, Laurence, Hartmann, Andreas, Lesca, Gaetan, Schluth-Bolard, Caroline, Monin, Pauline, Dupuis-Girod, Sophie, Guillen Sacoto, Maria J, Schnur, Rhonda E, Zhu, Zehua, Poisson, Alice, El Chehadeh, Salima, Alembik, Yves, Bruel, Ange-Line, Lehalle, Daphné, Nambot, Sophie, Moutton, Sébastien, Odent, Sylvie, Jaillard, Sylvie, Dubourg, Christèle, Hilhorst-Hofstee, Yvonne, Barbaro-Dieber, Tina, Ortega, Lucia, Bhoj, Elizabeth J, Masser-Frye, Diane, Bird, Lynne M, Lindstrom, Kristin, Ramsey, Keri M, Narayanan, Vinodh, Fassi, Emily, Willing, Marcia, Cole, Trevor, Salter, Claire G, Akilapa, Rhoda, Vandersteen, Anthony, Canham, Natalie, Rump, Patrick, Gerkes, Erica H, Klein Wassink-Ruiter, Jolien S, Bijlsma, Emilia, Hoffer, Mariëtte JV, Vargas, Marcelo, Wojcik, Antonina, Cherik, Florian, Francannet, Christine, Rosenfeld, Jill A, Machol, Keren, Scott, Daryl A, Bacino, Carlos A, Wang, Xia, Clark, Gary D, Bertoli, Marta, Zwolinski, Simon, Thomas, Rhys H, Akay, Ela, Chang, Richard C, Bressi, Rebekah, Sanchez Russo, Rossana, Srour, Myriam, Russell, Laura, Goyette, Anne-Marie E, Dupuis, Lucie, Mendoza-Londono, Roberto, Karimov, Catherine, Joseph, Maries, Nizon, Mathilde, Cogné, Benjamin, Kuechler, Alma, Piton, Amélie, Deciphering Developmental Disorder Study, Klee, Eric W, Lefebvre, Véronique, Clark, Karl J, Depienne, Christel, Zawerton, Ash, Zawerton, Ash, Mignot, Cyril, Sigafoos, Ashley, Blackburn, Patrick R, Haseeb, Abdul, McWalter, Kirsty, Ichikawa, Shoji, Nava, Caroline, Keren, Boris, Charles, Perrine, Marey, Isabelle, Tabet, Anne-Claude, Levy, Jonathan, Perrin, Laurence, Hartmann, Andreas, Lesca, Gaetan, Schluth-Bolard, Caroline, Monin, Pauline, Dupuis-Girod, Sophie, Guillen Sacoto, Maria J, Schnur, Rhonda E, Zhu, Zehua, Poisson, Alice, El Chehadeh, Salima, Alembik, Yves, Bruel, Ange-Line, Lehalle, Daphné, Nambot, Sophie, Moutton, Sébastien, Odent, Sylvie, Jaillard, Sylvie, Dubourg, Christèle, Hilhorst-Hofstee, Yvonne, Barbaro-Dieber, Tina, Ortega, Lucia, Bhoj, Elizabeth J, Masser-Frye, Diane, Bird, Lynne M, Lindstrom, Kristin, Ramsey, Keri M, Narayanan, Vinodh, Fassi, Emily, Willing, Marcia, Cole, Trevor, Salter, Claire G, Akilapa, Rhoda, Vandersteen, Anthony, Canham, Natalie, Rump, Patrick, Gerkes, Erica H, Klein Wassink-Ruiter, Jolien S, Bijlsma, Emilia, Hoffer, Mariëtte JV, Vargas, Marcelo, Wojcik, Antonina, Cherik, Florian, Francannet, Christine, Rosenfeld, Jill A, Machol, Keren, Scott, Daryl A, Bacino, Carlos A, Wang, Xia, Clark, Gary D, Bertoli, Marta, Zwolinski, Simon, Thomas, Rhys H, Akay, Ela, Chang, Richard C, Bressi, Rebekah, Sanchez Russo, Rossana, Srour, Myriam, Russell, Laura, Goyette, Anne-Marie E, Dupuis, Lucie, Mendoza-Londono, Roberto, Karimov, Catherine, Joseph, Maries, Nizon, Mathilde, Cogné, Benjamin, Kuechler, Alma, Piton, Amélie, Deciphering Developmental Disorder Study, Klee, Eric W, Lefebvre, Véronique, Clark, Karl J, and Depienne, Christel

Abstract

PurposeLamb-Shaffer syndrome (LAMSHF) is a neurodevelopmental disorder described in just over two dozen patients with heterozygous genetic alterations involving SOX5, a gene encoding a transcription factor regulating cell fate and differentiation in neurogenesis and other discrete developmental processes. The genetic alterations described so far are mainly microdeletions. The present study was aimed at increasing our understanding of LAMSHF, its clinical and genetic spectrum, and the pathophysiological mechanisms involved.MethodsClinical and genetic data were collected through GeneMatcher and clinical or genetic networks for 41 novel patients harboring various types ofSOX5 alterations. Functional consequences of selected substitutions were investigated.ResultsMicrodeletions and truncating variants occurred throughout SOX5. In contrast, most missense variants clustered in the pivotal SOX-specific high-mobility-group domain. The latter variants prevented SOX5 from binding DNA and promoting transactivation in vitro, whereas missense variants located outside the high-mobility-group domain did not. Clinical manifestations and severity varied among patients. No clear genotype-phenotype correlations were found, except that missense variants outside the high-mobility-group domain were generally better tolerated.ConclusionsThis study extends the clinical and genetic spectrum associated with LAMSHF and consolidates evidence that SOX5 haploinsufficiency leads to variable degrees of intellectual disability, language delay, and other clinical features.

Published
2020

5. PRRT2-related phenotypes in patients with a 16p11.2 deletion

Author

Vlaskamp, Danique R.M., Callenbach, Petra M.C., Rump, Patrick, Giannini, Lucia A.A., Brilstra, E.H., Dijkhuizen, Trijnie, Leeuw, N. de, Brouwer, O.F., Ravenswaaij-Arts, C.M.A. van, Vlaskamp, Danique R.M., Callenbach, Petra M.C., Rump, Patrick, Giannini, Lucia A.A., Brilstra, E.H., Dijkhuizen, Trijnie, Leeuw, N. de, Brouwer, O.F., and Ravenswaaij-Arts, C.M.A. van

Abstract

Contains fulltext : 202102.pdf (publisher's version ) (Open Access)

Published
2019

6. GRIN2A-related disorders : genotype and functional consequence predict phenotype

Author

Strehlow, Vincent, Heyne, Henrike O., Vlaskamp, Danique R.M., Marwick, Katie F.M., Rudolf, Gabrielle, de Bellescize, Julitta, Biskup, Saskia, Brilstra, Eva H., Brouwer, Oebele F., Callenbach, Petra M.C., Hentschel, Julia, Hirsch, Edouard, Kind, Peter C., Mignot, Cyril, Platzer, Konrad, Rump, Patrick, Skehel, Paul A., Wyllie, David J.A., Hardingham, Giles E., van Ravenswaaij-Arts, Conny M.A., Lesca, Gaetan, Lemke, Johannes R., GRIN2A study group, Strehlow, Vincent, Heyne, Henrike O., Vlaskamp, Danique R.M., Marwick, Katie F.M., Rudolf, Gabrielle, de Bellescize, Julitta, Biskup, Saskia, Brilstra, Eva H., Brouwer, Oebele F., Callenbach, Petra M.C., Hentschel, Julia, Hirsch, Edouard, Kind, Peter C., Mignot, Cyril, Platzer, Konrad, Rump, Patrick, Skehel, Paul A., Wyllie, David J.A., Hardingham, Giles E., van Ravenswaaij-Arts, Conny M.A., Lesca, Gaetan, Lemke, Johannes R., and GRIN2A study group

Published
2019

7. PRRT2-related phenotypes in patients with a 16p11.2 deletion

Author

Vlaskamp, Danique R.M., Callenbach, Petra M.C., Rump, Patrick, Giannini, Lucia A.A., Brilstra, Eva H., Dijkhuizen, Trijnie, Vos, Yvonne J., van der Kevie-Kersemaekers, Anne Marie F., Knijnenburg, Jeroen, de Leeuw, Nicole, van Minkelen, Rick, Ruivenkamp, Claudia A.L., Stegmann, Alexander P.A., Brouwer, Oebele F., van Ravenswaaij-Arts, Conny M.A., Vlaskamp, Danique R.M., Callenbach, Petra M.C., Rump, Patrick, Giannini, Lucia A.A., Brilstra, Eva H., Dijkhuizen, Trijnie, Vos, Yvonne J., van der Kevie-Kersemaekers, Anne Marie F., Knijnenburg, Jeroen, de Leeuw, Nicole, van Minkelen, Rick, Ruivenkamp, Claudia A.L., Stegmann, Alexander P.A., Brouwer, Oebele F., and van Ravenswaaij-Arts, Conny M.A.

Published
2019

8. PRRT2-related phenotypes in patients with a 16p11.2 deletion

Author

Vlaskamp, Danique R.M., Callenbach, Petra M.C., Rump, Patrick, Giannini, Lucia A.A., Brilstra, Eva H., Dijkhuizen, Trijnie, Vos, Yvonne J., van der Kevie-Kersemaekers, Anne Marie F., Knijnenburg, Jeroen, de Leeuw, Nicole, van Minkelen, Rick, Ruivenkamp, Claudia A.L., Stegmann, Alexander P.A., Brouwer, Oebele F., van Ravenswaaij-Arts, Conny M.A., Vlaskamp, Danique R.M., Callenbach, Petra M.C., Rump, Patrick, Giannini, Lucia A.A., Brilstra, Eva H., Dijkhuizen, Trijnie, Vos, Yvonne J., van der Kevie-Kersemaekers, Anne Marie F., Knijnenburg, Jeroen, de Leeuw, Nicole, van Minkelen, Rick, Ruivenkamp, Claudia A.L., Stegmann, Alexander P.A., Brouwer, Oebele F., and van Ravenswaaij-Arts, Conny M.A.

Published
2019

9. GRIN2A-related disorders : genotype and functional consequence predict phenotype

Author

Strehlow, Vincent, Heyne, Henrike O., Vlaskamp, Danique R.M., Marwick, Katie F.M., Rudolf, Gabrielle, de Bellescize, Julitta, Biskup, Saskia, Brilstra, Eva H., Brouwer, Oebele F., Callenbach, Petra M.C., Hentschel, Julia, Hirsch, Edouard, Kind, Peter C., Mignot, Cyril, Platzer, Konrad, Rump, Patrick, Skehel, Paul A., Wyllie, David J.A., Hardingham, Giles E., van Ravenswaaij-Arts, Conny M.A., Lesca, Gaetan, Lemke, Johannes R., GRIN2A study group, Strehlow, Vincent, Heyne, Henrike O., Vlaskamp, Danique R.M., Marwick, Katie F.M., Rudolf, Gabrielle, de Bellescize, Julitta, Biskup, Saskia, Brilstra, Eva H., Brouwer, Oebele F., Callenbach, Petra M.C., Hentschel, Julia, Hirsch, Edouard, Kind, Peter C., Mignot, Cyril, Platzer, Konrad, Rump, Patrick, Skehel, Paul A., Wyllie, David J.A., Hardingham, Giles E., van Ravenswaaij-Arts, Conny M.A., Lesca, Gaetan, Lemke, Johannes R., and GRIN2A study group

Published
2019

10. Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

Author

Balak, Chris, Benard, M., Schaefer, E., Iqbal, Sumaiya, Ramsey, K., Ernoult-Lange, Michele, Pfundt, R.P., Rump, Patrick, Weil, D., Piton, A., Balak, Chris, Benard, M., Schaefer, E., Iqbal, Sumaiya, Ramsey, K., Ernoult-Lange, Michele, Pfundt, R.P., Rump, Patrick, Weil, D., and Piton, A.

Abstract

Contains fulltext : 208055.pdf (publisher's version ) (Open Access)

Published
2019

11. Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

Author

Balak, Chris, Benard, Marianne, Schaefer, Elise, Iqbal, Sumaiya, Ramsey, Keri, Ernoult-Lange, Michele, Mattioli, Francesca, Llaci, Lorida, Geoffroy, Veronique, Courel, Maite, Naymik, Marcus, Bachman, Kristine K., Pfundt, Rolph, Rump, Patrick, ter Beest, Johanna, Wentzensen, Ingrid M., Monaghan, Kristin G., McWalter, Kirsty, Richholt, Ryan, Le Bechec, Antony, Jepsen, Wayne, De Both, Matt, Belnap, Newell, Boland, Anne, Piras, Ignazio S., Deleuze, Jean-Francois, Szelinger, Szabolcs, Dollfus, Helene, Chelly, Jamel, Muller, Jean, Campbell, Arthur, Lal, Dennis, Rangasamy, Sampathkumar, Mandel, Jean-Louis, Narayanan, Vinodh, Huentelman, Matt, Weil, Dominique, Piton, Amelie, Balak, Chris, Benard, Marianne, Schaefer, Elise, Iqbal, Sumaiya, Ramsey, Keri, Ernoult-Lange, Michele, Mattioli, Francesca, Llaci, Lorida, Geoffroy, Veronique, Courel, Maite, Naymik, Marcus, Bachman, Kristine K., Pfundt, Rolph, Rump, Patrick, ter Beest, Johanna, Wentzensen, Ingrid M., Monaghan, Kristin G., McWalter, Kirsty, Richholt, Ryan, Le Bechec, Antony, Jepsen, Wayne, De Both, Matt, Belnap, Newell, Boland, Anne, Piras, Ignazio S., Deleuze, Jean-Francois, Szelinger, Szabolcs, Dollfus, Helene, Chelly, Jamel, Muller, Jean, Campbell, Arthur, Lal, Dennis, Rangasamy, Sampathkumar, Mandel, Jean-Louis, Narayanan, Vinodh, Huentelman, Matt, Weil, Dominique, and Piton, Amelie

Abstract

The human RNA helicase DDX6 is an essential component of membrane-less organelles called processing bodies (PBs). PBs are involved in mRNA metabolic processes including translational repression via coordinated storage of mRNAs. Previous studies in human cell lines have implicated altered DDX6 in molecular and cellular dysfunction, but clinical consequences and pathogenesis in humans have yet to be described. Here, we report the identification of five rare de novo missense variants in DDX6 in probands presenting with intellectual disability, developmental delay, and similar dysmorphic features including telecanthus, epicanthus, arched eyebrows, and low-set ears. All five missense variants (p.His372Arg, p.Arg373Gln, p.Cys390Arg, p.Thr391Ile, and p.Thr391Pro) are located in two conserved motifs of the RecA-2 domain of DDX6 involved in RNA binding, helicase activity, and protein-partner binding. We use functional studies to demonstrate that the first variants identified (p.Arg373Gln and p.Cys390Arg) cause significant defects in PB assembly in primary fibro-blast and model human cell lines. These variants' interactions with several protein partners were also disrupted in immunoprecipitation assays. Further investigation via complementation assays included the additional variants p.Thr391Ile and p.Thr391Pro, both of which, similarly to p.Arg373Gln and p.Cys390Arg, demonstrated significant defects in P-body assembly. Complementing these molecular findings, modeling of the variants on solved protein structures showed distinct spatial clustering near known protein binding regions. Collectively, our clinical and molecular data describe a neurodevelopmental syndrome associated with pathogenic missense variants in DDX6. Additionally, we suggest DDX6 join the DExD/H-box genes DDX3X and DHX30 in an emerging class of neurodevelopmental disorders involving RNA helicases.

Published
2019

12. PRRT2-related phenotypes in patients with a 16p11.2 deletion

Author

Vlaskamp, Danique R.M., Callenbach, Petra M.C., Rump, Patrick, Giannini, Lucia A.A., Brilstra, E.H., Dijkhuizen, Trijnie, Leeuw, N. de, Brouwer, O.F., Ravenswaaij-Arts, C.M.A. van, Vlaskamp, Danique R.M., Callenbach, Petra M.C., Rump, Patrick, Giannini, Lucia A.A., Brilstra, E.H., Dijkhuizen, Trijnie, Leeuw, N. de, Brouwer, O.F., and Ravenswaaij-Arts, C.M.A. van

Abstract

Contains fulltext : 202102.pdf (publisher's version ) (Open Access)

Published
2019

13. Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

Author

Balak, Chris, Benard, M., Schaefer, E., Iqbal, Sumaiya, Ramsey, K., Ernoult-Lange, Michele, Pfundt, R.P., Rump, Patrick, Weil, D., Piton, A., Balak, Chris, Benard, M., Schaefer, E., Iqbal, Sumaiya, Ramsey, K., Ernoult-Lange, Michele, Pfundt, R.P., Rump, Patrick, Weil, D., and Piton, A.

Abstract

Contains fulltext : 208055.pdf (publisher's version ) (Open Access)

Published
2019

14. PRRT2-related phenotypes in patients with a 16p11.2 deletion

Author

Vlaskamp, Danique R.M., Callenbach, Petra M.C., Rump, Patrick, Giannini, Lucia A.A., Brilstra, Eva H., Dijkhuizen, Trijnie, Vos, Yvonne J., van der Kevie-Kersemaekers, Anne Marie F., Knijnenburg, Jeroen, de Leeuw, Nicole, van Minkelen, Rick, Ruivenkamp, Claudia A.L., Stegmann, Alexander P.A., Brouwer, Oebele F., van Ravenswaaij-Arts, Conny M.A., Vlaskamp, Danique R.M., Callenbach, Petra M.C., Rump, Patrick, Giannini, Lucia A.A., Brilstra, Eva H., Dijkhuizen, Trijnie, Vos, Yvonne J., van der Kevie-Kersemaekers, Anne Marie F., Knijnenburg, Jeroen, de Leeuw, Nicole, van Minkelen, Rick, Ruivenkamp, Claudia A.L., Stegmann, Alexander P.A., Brouwer, Oebele F., and van Ravenswaaij-Arts, Conny M.A.

Published
2019

15. GRIN2A-related disorders : genotype and functional consequence predict phenotype

Author

Strehlow, Vincent, Heyne, Henrike O., Vlaskamp, Danique R.M., Marwick, Katie F.M., Rudolf, Gabrielle, de Bellescize, Julitta, Biskup, Saskia, Brilstra, Eva H., Brouwer, Oebele F., Callenbach, Petra M.C., Hentschel, Julia, Hirsch, Edouard, Kind, Peter C., Mignot, Cyril, Platzer, Konrad, Rump, Patrick, Skehel, Paul A., Wyllie, David J.A., Hardingham, Giles E., van Ravenswaaij-Arts, Conny M.A., Lesca, Gaetan, Lemke, Johannes R., GRIN2A study group, Strehlow, Vincent, Heyne, Henrike O., Vlaskamp, Danique R.M., Marwick, Katie F.M., Rudolf, Gabrielle, de Bellescize, Julitta, Biskup, Saskia, Brilstra, Eva H., Brouwer, Oebele F., Callenbach, Petra M.C., Hentschel, Julia, Hirsch, Edouard, Kind, Peter C., Mignot, Cyril, Platzer, Konrad, Rump, Patrick, Skehel, Paul A., Wyllie, David J.A., Hardingham, Giles E., van Ravenswaaij-Arts, Conny M.A., Lesca, Gaetan, Lemke, Johannes R., and GRIN2A study group

Published
2019

16. Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

Author

Balak, Chris, Benard, M., Schaefer, E., Iqbal, Sumaiya, Ramsey, K., Ernoult-Lange, Michele, Pfundt, R.P., Rump, Patrick, Weil, D., Piton, A., Balak, Chris, Benard, M., Schaefer, E., Iqbal, Sumaiya, Ramsey, K., Ernoult-Lange, Michele, Pfundt, R.P., Rump, Patrick, Weil, D., and Piton, A.

Abstract

Contains fulltext : 208055.pdf (publisher's version ) (Open Access)

Published
2019

17. PRRT2-related phenotypes in patients with a 16p11.2 deletion

Author

Vlaskamp, Danique R.M., Callenbach, Petra M.C., Rump, Patrick, Giannini, Lucia A.A., Brilstra, E.H., Dijkhuizen, Trijnie, Leeuw, N. de, Brouwer, O.F., Ravenswaaij-Arts, C.M.A. van, Vlaskamp, Danique R.M., Callenbach, Petra M.C., Rump, Patrick, Giannini, Lucia A.A., Brilstra, E.H., Dijkhuizen, Trijnie, Leeuw, N. de, Brouwer, O.F., and Ravenswaaij-Arts, C.M.A. van

Abstract

Contains fulltext : 202102.pdf (publisher's version ) (Open Access)

Published
2019

18. PRRT2-related phenotypes in patients with a 16p11.2 deletion

Author

Genetica, Genetica Klinische Genetica, Brain, Vlaskamp, Danique R.M., Callenbach, Petra M.C., Rump, Patrick, Giannini, Lucia A.A., Brilstra, Eva H., Dijkhuizen, Trijnie, Vos, Yvonne J., van der Kevie-Kersemaekers, Anne Marie F., Knijnenburg, Jeroen, de Leeuw, Nicole, van Minkelen, Rick, Ruivenkamp, Claudia A.L., Stegmann, Alexander P.A., Brouwer, Oebele F., van Ravenswaaij-Arts, Conny M.A., Genetica, Genetica Klinische Genetica, Brain, Vlaskamp, Danique R.M., Callenbach, Petra M.C., Rump, Patrick, Giannini, Lucia A.A., Brilstra, Eva H., Dijkhuizen, Trijnie, Vos, Yvonne J., van der Kevie-Kersemaekers, Anne Marie F., Knijnenburg, Jeroen, de Leeuw, Nicole, van Minkelen, Rick, Ruivenkamp, Claudia A.L., Stegmann, Alexander P.A., Brouwer, Oebele F., and van Ravenswaaij-Arts, Conny M.A.

Published
2019

19. GRIN2A-related disorders: genotype and functional consequence predict phenotype

Author

UMC Utrecht, Genetica Klinische Genetica, Brain, Strehlow, Vincent, Heyne, Henrike O., Vlaskamp, Danique R.M., Marwick, Katie F.M., Rudolf, Gabrielle, de Bellescize, Julitta, Biskup, Saskia, Brilstra, Eva H., Brouwer, Oebele F., Callenbach, Petra M.C., Hentschel, Julia, Hirsch, Edouard, Kind, Peter C., Mignot, Cyril, Platzer, Konrad, Rump, Patrick, Skehel, Paul A., Wyllie, David J.A., Hardingham, Giles E., van Ravenswaaij-Arts, Conny M.A., Lesca, Gaetan, Lemke, Johannes R., GRIN2A study group, UMC Utrecht, Genetica Klinische Genetica, Brain, Strehlow, Vincent, Heyne, Henrike O., Vlaskamp, Danique R.M., Marwick, Katie F.M., Rudolf, Gabrielle, de Bellescize, Julitta, Biskup, Saskia, Brilstra, Eva H., Brouwer, Oebele F., Callenbach, Petra M.C., Hentschel, Julia, Hirsch, Edouard, Kind, Peter C., Mignot, Cyril, Platzer, Konrad, Rump, Patrick, Skehel, Paul A., Wyllie, David J.A., Hardingham, Giles E., van Ravenswaaij-Arts, Conny M.A., Lesca, Gaetan, Lemke, Johannes R., and GRIN2A study group

Published
2019

20. Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

Author

Balak, Chris, Benard, Marianne, Schaefer, Elise, Iqbal, Sumaiya, Ramsey, Keri, Ernoult-Lange, Michele, Mattioli, Francesca, Llaci, Lorida, Geoffroy, Veronique, Courel, Maite, Naymik, Marcus, Bachman, Kristine K., Pfundt, Rolph, Rump, Patrick, ter Beest, Johanna, Wentzensen, Ingrid M., Monaghan, Kristin G., McWalter, Kirsty, Richholt, Ryan, Le Bechec, Antony, Jepsen, Wayne, De Both, Matt, Belnap, Newell, Boland, Anne, Piras, Ignazio S., Deleuze, Jean-Francois, Szelinger, Szabolcs, Dollfus, Helene, Chelly, Jamel, Muller, Jean, Campbell, Arthur, Lal, Dennis, Rangasamy, Sampathkumar, Mandel, Jean-Louis, Narayanan, Vinodh, Huentelman, Matt, Weil, Dominique, Piton, Amelie, Balak, Chris, Benard, Marianne, Schaefer, Elise, Iqbal, Sumaiya, Ramsey, Keri, Ernoult-Lange, Michele, Mattioli, Francesca, Llaci, Lorida, Geoffroy, Veronique, Courel, Maite, Naymik, Marcus, Bachman, Kristine K., Pfundt, Rolph, Rump, Patrick, ter Beest, Johanna, Wentzensen, Ingrid M., Monaghan, Kristin G., McWalter, Kirsty, Richholt, Ryan, Le Bechec, Antony, Jepsen, Wayne, De Both, Matt, Belnap, Newell, Boland, Anne, Piras, Ignazio S., Deleuze, Jean-Francois, Szelinger, Szabolcs, Dollfus, Helene, Chelly, Jamel, Muller, Jean, Campbell, Arthur, Lal, Dennis, Rangasamy, Sampathkumar, Mandel, Jean-Louis, Narayanan, Vinodh, Huentelman, Matt, Weil, Dominique, and Piton, Amelie

Abstract

The human RNA helicase DDX6 is an essential component of membrane-less organelles called processing bodies (PBs). PBs are involved in mRNA metabolic processes including translational repression via coordinated storage of mRNAs. Previous studies in human cell lines have implicated altered DDX6 in molecular and cellular dysfunction, but clinical consequences and pathogenesis in humans have yet to be described. Here, we report the identification of five rare de novo missense variants in DDX6 in probands presenting with intellectual disability, developmental delay, and similar dysmorphic features including telecanthus, epicanthus, arched eyebrows, and low-set ears. All five missense variants (p.His372Arg, p.Arg373Gln, p.Cys390Arg, p.Thr391Ile, and p.Thr391Pro) are located in two conserved motifs of the RecA-2 domain of DDX6 involved in RNA binding, helicase activity, and protein-partner binding. We use functional studies to demonstrate that the first variants identified (p.Arg373Gln and p.Cys390Arg) cause significant defects in PB assembly in primary fibro-blast and model human cell lines. These variants' interactions with several protein partners were also disrupted in immunoprecipitation assays. Further investigation via complementation assays included the additional variants p.Thr391Ile and p.Thr391Pro, both of which, similarly to p.Arg373Gln and p.Cys390Arg, demonstrated significant defects in P-body assembly. Complementing these molecular findings, modeling of the variants on solved protein structures showed distinct spatial clustering near known protein binding regions. Collectively, our clinical and molecular data describe a neurodevelopmental syndrome associated with pathogenic missense variants in DDX6. Additionally, we suggest DDX6 join the DExD/H-box genes DDX3X and DHX30 in an emerging class of neurodevelopmental disorders involving RNA helicases.

Published
2019

21. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

Author

Olson, Heather E, Jean-Marçais, Nolwenn, Yang, Edward, Heron, Delphine, Tatton-Brown, Katrina, van der Zwaag, Paul A, Bijlsma, Emilia K, Krock, Bryan L, Backer, E, Kamsteeg, Erik-Jan, Sinnema, Margje, Reijnders, Margot R F, Bearden, David, Begtrup, Amber, Telegrafi, Aida, Lunsing, Roelineke J, Burglen, Lydie, Lesca, Gaetan, Cho, Megan T, Smith, Lacey A, Sheidley, Beth R, Moufawad El Achkar, Christelle, Pearl, Phillip L, Poduri, Annapurna, Skraban, Cara M, Tarpinian, Jennifer, Nesbitt, Addie I, Fransen van de Putte, Dietje E, Ruivenkamp, Claudia A L, Rump, Patrick, Chatron, Nicolas, Sabatier, Isabelle, De Bellescize, Julitta, Guibaud, Laurent, Sweetser, David A, Waxler, Jessica L, Wierenga, Klaas J, Donadieu, Jean, Narayanan, Vinodh, Ramsey, Keri M, Nava, Caroline, Rivière, Jean-Baptiste, Vitobello, Antonio, Tran Mau-Them, Frédéric, Philippe, Christophe, Bruel, Ange-Line, Duffourd, Yannis, Thomas, Laurel, Lelieveld, Stefan H, Schuurs-Hoeijmakers, Janneke, DDD Study, Olson, Heather E, Jean-Marçais, Nolwenn, Yang, Edward, Heron, Delphine, Tatton-Brown, Katrina, van der Zwaag, Paul A, Bijlsma, Emilia K, Krock, Bryan L, Backer, E, Kamsteeg, Erik-Jan, Sinnema, Margje, Reijnders, Margot R F, Bearden, David, Begtrup, Amber, Telegrafi, Aida, Lunsing, Roelineke J, Burglen, Lydie, Lesca, Gaetan, Cho, Megan T, Smith, Lacey A, Sheidley, Beth R, Moufawad El Achkar, Christelle, Pearl, Phillip L, Poduri, Annapurna, Skraban, Cara M, Tarpinian, Jennifer, Nesbitt, Addie I, Fransen van de Putte, Dietje E, Ruivenkamp, Claudia A L, Rump, Patrick, Chatron, Nicolas, Sabatier, Isabelle, De Bellescize, Julitta, Guibaud, Laurent, Sweetser, David A, Waxler, Jessica L, Wierenga, Klaas J, Donadieu, Jean, Narayanan, Vinodh, Ramsey, Keri M, Nava, Caroline, Rivière, Jean-Baptiste, Vitobello, Antonio, Tran Mau-Them, Frédéric, Philippe, Christophe, Bruel, Ange-Line, Duffourd, Yannis, Thomas, Laurel, Lelieveld, Stefan H, Schuurs-Hoeijmakers, Janneke, and DDD Study

Published
2018

22. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

Author

Olson, Heather E, Jean-Marçais, Nolwenn, Yang, Edward, Heron, Delphine, Tatton-Brown, Katrina, van der Zwaag, Paul A, Bijlsma, Emilia K, Krock, Bryan L, Backer, E, Kamsteeg, Erik-Jan, Sinnema, Margje, Reijnders, Margot R F, Bearden, David, Begtrup, Amber, Telegrafi, Aida, Lunsing, Roelineke J, Burglen, Lydie, Lesca, Gaetan, Cho, Megan T, Smith, Lacey A, Sheidley, Beth R, Moufawad El Achkar, Christelle, Pearl, Phillip L, Poduri, Annapurna, Skraban, Cara M, Tarpinian, Jennifer, Nesbitt, Addie I, Fransen van de Putte, Dietje E, Ruivenkamp, Claudia A L, Rump, Patrick, Chatron, Nicolas, Sabatier, Isabelle, De Bellescize, Julitta, Guibaud, Laurent, Sweetser, David A, Waxler, Jessica L, Wierenga, Klaas J, Donadieu, Jean, Narayanan, Vinodh, Ramsey, Keri M, Nava, Caroline, Rivière, Jean-Baptiste, Vitobello, Antonio, Tran Mau-Them, Frédéric, Philippe, Christophe, Bruel, Ange-Line, Duffourd, Yannis, Thomas, Laurel, Lelieveld, Stefan H, Schuurs-Hoeijmakers, Janneke, DDD Study, Olson, Heather E, Jean-Marçais, Nolwenn, Yang, Edward, Heron, Delphine, Tatton-Brown, Katrina, van der Zwaag, Paul A, Bijlsma, Emilia K, Krock, Bryan L, Backer, E, Kamsteeg, Erik-Jan, Sinnema, Margje, Reijnders, Margot R F, Bearden, David, Begtrup, Amber, Telegrafi, Aida, Lunsing, Roelineke J, Burglen, Lydie, Lesca, Gaetan, Cho, Megan T, Smith, Lacey A, Sheidley, Beth R, Moufawad El Achkar, Christelle, Pearl, Phillip L, Poduri, Annapurna, Skraban, Cara M, Tarpinian, Jennifer, Nesbitt, Addie I, Fransen van de Putte, Dietje E, Ruivenkamp, Claudia A L, Rump, Patrick, Chatron, Nicolas, Sabatier, Isabelle, De Bellescize, Julitta, Guibaud, Laurent, Sweetser, David A, Waxler, Jessica L, Wierenga, Klaas J, Donadieu, Jean, Narayanan, Vinodh, Ramsey, Keri M, Nava, Caroline, Rivière, Jean-Baptiste, Vitobello, Antonio, Tran Mau-Them, Frédéric, Philippe, Christophe, Bruel, Ange-Line, Duffourd, Yannis, Thomas, Laurel, Lelieveld, Stefan H, Schuurs-Hoeijmakers, Janneke, and DDD Study

Published
2018

23. Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations

Author

Wenzel, Andrea, Altmueller, Janine, Ekici, Arif B., Popp, Bernt, Stueber, Kurt, Thiele, Holger, Pannes, Alois, Staubach, Simon, Salido, Eduardo, Nuernberg, Peter, Reinhardt, Richard, Reis, Andre, Rump, Patrick, Hanisch, Franz-Georg, Wolf, Matthias T. F., Wiesener, Michael, Huettel, Bruno, Beck, Bodo B., Wenzel, Andrea, Altmueller, Janine, Ekici, Arif B., Popp, Bernt, Stueber, Kurt, Thiele, Holger, Pannes, Alois, Staubach, Simon, Salido, Eduardo, Nuernberg, Peter, Reinhardt, Richard, Reis, Andre, Rump, Patrick, Hanisch, Franz-Georg, Wolf, Matthias T. F., Wiesener, Michael, Huettel, Bruno, and Beck, Bodo B.

Abstract

Recently, the Mucin-1 (MUC1) gene has been identified as a causal gene of autosomal dominant tubulointerstitial kidney disease (ADTKD). Most causative mutations are buried within a GC-rich 60 basepair variable number of tandem repeat (VNTR), which escapes identification by massive parallel sequencing methods due to the complexity of the VNTR. We established long read single molecule real time sequencing (SMRT) targeted to the MUC1-VNTR as an alternative strategy to the snapshot assay. Our approach allows complete VNTR assembly, thereby enabling the detection of all variants residing within the VNTR and simultaneous determination of VNTR length. We present high resolution data on the VNTR architecture for a cohort of snapshot positive (n = 9) and negative (n = 7) ADTKD families. By SMRT sequencing we could confirm the diagnosis in all previously tested cases, reconstruct both VNTR alleles and determine the exact position of the causative variant in eight of nine families. This study demonstrates that precise positioning of the causative mutation(s) and identification of other coding and noncoding sequence variants in ADTKD-MUC1 is feasible. SMRT sequencing could provide a powerful tool to uncover potential factors encoded within the VNTR that associate with intra-and interfamilial phenotype variability of MUC1 related kidney disease.

Published
2018

24. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

Author

Olson, Heather E, Jean-Marçais, Nolwenn, Yang, Edward, Heron, Delphine, Tatton-Brown, Katrina, van der Zwaag, Paul A, Bijlsma, Emilia K, Krock, Bryan L, Backer, E, Kamsteeg, Erik-Jan, Sinnema, Margje, Reijnders, Margot R F, Bearden, David, Begtrup, Amber, Telegrafi, Aida, Lunsing, Roelineke J, Burglen, Lydie, Lesca, Gaetan, Cho, Megan T, Smith, Lacey A, Sheidley, Beth R, Moufawad El Achkar, Christelle, Pearl, Phillip L, Poduri, Annapurna, Skraban, Cara M, Tarpinian, Jennifer, Nesbitt, Addie I, Fransen van de Putte, Dietje E, Ruivenkamp, Claudia A L, Rump, Patrick, Chatron, Nicolas, Sabatier, Isabelle, De Bellescize, Julitta, Guibaud, Laurent, Sweetser, David A, Waxler, Jessica L, Wierenga, Klaas J, Donadieu, Jean, Narayanan, Vinodh, Ramsey, Keri M, Nava, Caroline, Rivière, Jean-Baptiste, Vitobello, Antonio, Tran Mau-Them, Frédéric, Philippe, Christophe, Bruel, Ange-Line, Duffourd, Yannis, Thomas, Laurel, Lelieveld, Stefan H, Schuurs-Hoeijmakers, Janneke, DDD Study, Olson, Heather E, Jean-Marçais, Nolwenn, Yang, Edward, Heron, Delphine, Tatton-Brown, Katrina, van der Zwaag, Paul A, Bijlsma, Emilia K, Krock, Bryan L, Backer, E, Kamsteeg, Erik-Jan, Sinnema, Margje, Reijnders, Margot R F, Bearden, David, Begtrup, Amber, Telegrafi, Aida, Lunsing, Roelineke J, Burglen, Lydie, Lesca, Gaetan, Cho, Megan T, Smith, Lacey A, Sheidley, Beth R, Moufawad El Achkar, Christelle, Pearl, Phillip L, Poduri, Annapurna, Skraban, Cara M, Tarpinian, Jennifer, Nesbitt, Addie I, Fransen van de Putte, Dietje E, Ruivenkamp, Claudia A L, Rump, Patrick, Chatron, Nicolas, Sabatier, Isabelle, De Bellescize, Julitta, Guibaud, Laurent, Sweetser, David A, Waxler, Jessica L, Wierenga, Klaas J, Donadieu, Jean, Narayanan, Vinodh, Ramsey, Keri M, Nava, Caroline, Rivière, Jean-Baptiste, Vitobello, Antonio, Tran Mau-Them, Frédéric, Philippe, Christophe, Bruel, Ange-Line, Duffourd, Yannis, Thomas, Laurel, Lelieveld, Stefan H, Schuurs-Hoeijmakers, Janneke, and DDD Study

Published
2018

25. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

Author

Genetica Klinische Genetica, Cancer, Olson, Heather E, Jean-Marçais, Nolwenn, Yang, Edward, Heron, Delphine, Tatton-Brown, Katrina, van der Zwaag, Paul A, Bijlsma, Emilia K, Krock, Bryan L, Backer, E, Kamsteeg, Erik-Jan, Sinnema, Margje, Reijnders, Margot R F, Bearden, David, Begtrup, Amber, Telegrafi, Aida, Lunsing, Roelineke J, Burglen, Lydie, Lesca, Gaetan, Cho, Megan T, Smith, Lacey A, Sheidley, Beth R, Moufawad El Achkar, Christelle, Pearl, Phillip L, Poduri, Annapurna, Skraban, Cara M, Tarpinian, Jennifer, Nesbitt, Addie I, Fransen van de Putte, Dietje E, Ruivenkamp, Claudia A L, Rump, Patrick, Chatron, Nicolas, Sabatier, Isabelle, De Bellescize, Julitta, Guibaud, Laurent, Sweetser, David A, Waxler, Jessica L, Wierenga, Klaas J, Donadieu, Jean, Narayanan, Vinodh, Ramsey, Keri M, Nava, Caroline, Rivière, Jean-Baptiste, Vitobello, Antonio, Tran Mau-Them, Frédéric, Philippe, Christophe, Bruel, Ange-Line, Duffourd, Yannis, Thomas, Laurel, Lelieveld, Stefan H, Schuurs-Hoeijmakers, Janneke, DDD Study, Genetica Klinische Genetica, Cancer, Olson, Heather E, Jean-Marçais, Nolwenn, Yang, Edward, Heron, Delphine, Tatton-Brown, Katrina, van der Zwaag, Paul A, Bijlsma, Emilia K, Krock, Bryan L, Backer, E, Kamsteeg, Erik-Jan, Sinnema, Margje, Reijnders, Margot R F, Bearden, David, Begtrup, Amber, Telegrafi, Aida, Lunsing, Roelineke J, Burglen, Lydie, Lesca, Gaetan, Cho, Megan T, Smith, Lacey A, Sheidley, Beth R, Moufawad El Achkar, Christelle, Pearl, Phillip L, Poduri, Annapurna, Skraban, Cara M, Tarpinian, Jennifer, Nesbitt, Addie I, Fransen van de Putte, Dietje E, Ruivenkamp, Claudia A L, Rump, Patrick, Chatron, Nicolas, Sabatier, Isabelle, De Bellescize, Julitta, Guibaud, Laurent, Sweetser, David A, Waxler, Jessica L, Wierenga, Klaas J, Donadieu, Jean, Narayanan, Vinodh, Ramsey, Keri M, Nava, Caroline, Rivière, Jean-Baptiste, Vitobello, Antonio, Tran Mau-Them, Frédéric, Philippe, Christophe, Bruel, Ange-Line, Duffourd, Yannis, Thomas, Laurel, Lelieveld, Stefan H, Schuurs-Hoeijmakers, Janneke, and DDD Study

Published
2018

26. Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations

Author

Wenzel, Andrea, Altmueller, Janine, Ekici, Arif B., Popp, Bernt, Stueber, Kurt, Thiele, Holger, Pannes, Alois, Staubach, Simon, Salido, Eduardo, Nuernberg, Peter, Reinhardt, Richard, Reis, Andre, Rump, Patrick, Hanisch, Franz-Georg, Wolf, Matthias T. F., Wiesener, Michael, Huettel, Bruno, Beck, Bodo B., Wenzel, Andrea, Altmueller, Janine, Ekici, Arif B., Popp, Bernt, Stueber, Kurt, Thiele, Holger, Pannes, Alois, Staubach, Simon, Salido, Eduardo, Nuernberg, Peter, Reinhardt, Richard, Reis, Andre, Rump, Patrick, Hanisch, Franz-Georg, Wolf, Matthias T. F., Wiesener, Michael, Huettel, Bruno, and Beck, Bodo B.

Abstract

Recently, the Mucin-1 (MUC1) gene has been identified as a causal gene of autosomal dominant tubulointerstitial kidney disease (ADTKD). Most causative mutations are buried within a GC-rich 60 basepair variable number of tandem repeat (VNTR), which escapes identification by massive parallel sequencing methods due to the complexity of the VNTR. We established long read single molecule real time sequencing (SMRT) targeted to the MUC1-VNTR as an alternative strategy to the snapshot assay. Our approach allows complete VNTR assembly, thereby enabling the detection of all variants residing within the VNTR and simultaneous determination of VNTR length. We present high resolution data on the VNTR architecture for a cohort of snapshot positive (n = 9) and negative (n = 7) ADTKD families. By SMRT sequencing we could confirm the diagnosis in all previously tested cases, reconstruct both VNTR alleles and determine the exact position of the causative variant in eight of nine families. This study demonstrates that precise positioning of the causative mutation(s) and identification of other coding and noncoding sequence variants in ADTKD-MUC1 is feasible. SMRT sequencing could provide a powerful tool to uncover potential factors encoded within the VNTR that associate with intra-and interfamilial phenotype variability of MUC1 related kidney disease.

Published
2018

27. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Author

Redin, Claire, Brand, Harrison, Collins, Ryan L, Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C, Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M, Abbott, Mary-Alice, Abdul-Rahman, Omar A, Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L, Alkuraya, Fowzan S, An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F, Bartell, Tina, Bernstein, Jonathan A, Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M H F, Brilstra, Eva H, Brown, Chester W, Brüggenwirth, Hennie T, Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B, Cushing, Tom, David, Dezso, Deardorff, Matthew A, Dheedene, Annelies, D'Hooghe, Marc, de Vries, Bert B A, Earl, Dawn L, Ferguson, Heather L, Fisher, Heather, FitzPatrick, David R, Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T, Gliem, Troy, Grady, Margo, Graham, Brett H, Griffis, Cristin, Gripp, Karen W, Gropman, Andrea L, Hanson-Kahn, Andrea, Harris, David J, Hayden, Mark A, Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D, Hopkin, Robert J, Hubshman, Monika W, Innes, A Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C, Janssens, Sandra, Jewett, Tamison, Johnson, John P, Jongmans, Marjolijn C, Kahler, Stephen G, Koolen, David A, Korzelius, Jerome, Kroisel, Peter M, Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V, Li, Haibo, Li, Hong, Liao, Eric C, Lim, Cynthia, Lose, Edward J, Lucente, Diane, Macera, Michael J, Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L, Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W, Mendoza, Cinthya J Zepeda, Menten, Björn, Middelkamp, Sjors, Mikami, Liya R, Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E, Moya, Graciela, Nieuwint, Aggie W, Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P, Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Aguilar, Raul E Piña, Poddighe, Pino J, Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L P, Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R, Tagoe, Julia, Thakuria, Joseph V, van Bon, Bregje W, van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M, van Roosmalen, Markus J, Vergult, Sarah, Volker-Touw, Catharina M L, Warburton, Dorothy P, Waterman, Matthew J, Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A, Zori, Roberto T, Levy, Brynn, Brunner, Han G, de Leeuw, Nicole, Kloosterman, Wigard P, Thorland, Erik C, Morton, Cynthia C, Gusella, James F, Talkowski, Michael E, Redin, Claire, Brand, Harrison, Collins, Ryan L, Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C, Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M, Abbott, Mary-Alice, Abdul-Rahman, Omar A, Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L, Alkuraya, Fowzan S, An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F, Bartell, Tina, Bernstein, Jonathan A, Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M H F, Brilstra, Eva H, Brown, Chester W, Brüggenwirth, Hennie T, Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B, Cushing, Tom, David, Dezso, Deardorff, Matthew A, Dheedene, Annelies, D'Hooghe, Marc, de Vries, Bert B A, Earl, Dawn L, Ferguson, Heather L, Fisher, Heather, FitzPatrick, David R, Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T, Gliem, Troy, Grady, Margo, Graham, Brett H, Griffis, Cristin, Gripp, Karen W, Gropman, Andrea L, Hanson-Kahn, Andrea, Harris, David J, Hayden, Mark A, Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D, Hopkin, Robert J, Hubshman, Monika W, Innes, A Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C, Janssens, Sandra, Jewett, Tamison, Johnson, John P, Jongmans, Marjolijn C, Kahler, Stephen G, Koolen, David A, Korzelius, Jerome, Kroisel, Peter M, Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V, Li, Haibo, Li, Hong, Liao, Eric C, Lim, Cynthia, Lose, Edward J, Lucente, Diane, Macera, Michael J, Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L, Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W, Mendoza, Cinthya J Zepeda, Menten, Björn, Middelkamp, Sjors, Mikami, Liya R, Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E, Moya, Graciela, Nieuwint, Aggie W, Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P, Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Aguilar, Raul E Piña, Poddighe, Pino J, Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L P, Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R, Tagoe, Julia, Thakuria, Joseph V, van Bon, Bregje W, van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M, van Roosmalen, Markus J, Vergult, Sarah, Volker-Touw, Catharina M L, Warburton, Dorothy P, Waterman, Matthew J, Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A, Zori, Roberto T, Levy, Brynn, Brunner, Han G, de Leeuw, Nicole, Kloosterman, Wigard P, Thorland, Erik C, Morton, Cynthia C, Gusella, James F, and Talkowski, Michael E

Published
2017

28. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Author

Redin, Claire, Brand, Harrison, Collins, Ryan L, Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C, Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M, Abbott, Mary-Alice, Abdul-Rahman, Omar A, Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L, Alkuraya, Fowzan S, An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F, Bartell, Tina, Bernstein, Jonathan A, Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M H F, Brilstra, Eva H, Brown, Chester W, Brüggenwirth, Hennie T, Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B, Cushing, Tom, David, Dezso, Deardorff, Matthew A, Dheedene, Annelies, D'Hooghe, Marc, de Vries, Bert B A, Earl, Dawn L, Ferguson, Heather L, Fisher, Heather, FitzPatrick, David R, Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T, Gliem, Troy, Grady, Margo, Graham, Brett H, Griffis, Cristin, Gripp, Karen W, Gropman, Andrea L, Hanson-Kahn, Andrea, Harris, David J, Hayden, Mark A, Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D, Hopkin, Robert J, Hubshman, Monika W, Innes, A Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C, Janssens, Sandra, Jewett, Tamison, Johnson, John P, Jongmans, Marjolijn C, Kahler, Stephen G, Koolen, David A, Korzelius, Jerome, Kroisel, Peter M, Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V, Li, Haibo, Li, Hong, Liao, Eric C, Lim, Cynthia, Lose, Edward J, Lucente, Diane, Macera, Michael J, Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L, Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W, Mendoza, Cinthya J Zepeda, Menten, Björn, Middelkamp, Sjors, Mikami, Liya R, Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E, Moya, Graciela, Nieuwint, Aggie W, Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P, Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Aguilar, Raul E Piña, Poddighe, Pino J, Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L P, Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R, Tagoe, Julia, Thakuria, Joseph V, van Bon, Bregje W, van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M, van Roosmalen, Markus J, Vergult, Sarah, Volker-Touw, Catharina M L, Warburton, Dorothy P, Waterman, Matthew J, Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A, Zori, Roberto T, Levy, Brynn, Brunner, Han G, de Leeuw, Nicole, Kloosterman, Wigard P, Thorland, Erik C, Morton, Cynthia C, Gusella, James F, Talkowski, Michael E, Redin, Claire, Brand, Harrison, Collins, Ryan L, Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C, Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M, Abbott, Mary-Alice, Abdul-Rahman, Omar A, Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L, Alkuraya, Fowzan S, An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F, Bartell, Tina, Bernstein, Jonathan A, Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M H F, Brilstra, Eva H, Brown, Chester W, Brüggenwirth, Hennie T, Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B, Cushing, Tom, David, Dezso, Deardorff, Matthew A, Dheedene, Annelies, D'Hooghe, Marc, de Vries, Bert B A, Earl, Dawn L, Ferguson, Heather L, Fisher, Heather, FitzPatrick, David R, Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T, Gliem, Troy, Grady, Margo, Graham, Brett H, Griffis, Cristin, Gripp, Karen W, Gropman, Andrea L, Hanson-Kahn, Andrea, Harris, David J, Hayden, Mark A, Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D, Hopkin, Robert J, Hubshman, Monika W, Innes, A Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C, Janssens, Sandra, Jewett, Tamison, Johnson, John P, Jongmans, Marjolijn C, Kahler, Stephen G, Koolen, David A, Korzelius, Jerome, Kroisel, Peter M, Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V, Li, Haibo, Li, Hong, Liao, Eric C, Lim, Cynthia, Lose, Edward J, Lucente, Diane, Macera, Michael J, Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L, Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W, Mendoza, Cinthya J Zepeda, Menten, Björn, Middelkamp, Sjors, Mikami, Liya R, Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E, Moya, Graciela, Nieuwint, Aggie W, Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P, Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Aguilar, Raul E Piña, Poddighe, Pino J, Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L P, Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R, Tagoe, Julia, Thakuria, Joseph V, van Bon, Bregje W, van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M, van Roosmalen, Markus J, Vergult, Sarah, Volker-Touw, Catharina M L, Warburton, Dorothy P, Waterman, Matthew J, Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A, Zori, Roberto T, Levy, Brynn, Brunner, Han G, de Leeuw, Nicole, Kloosterman, Wigard P, Thorland, Erik C, Morton, Cynthia C, Gusella, James F, and Talkowski, Michael E

Published
2017

29. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Author

Genetica Klinische Genetica, Brain, CMM, Circulatory Health, Cancer, Child Health, Genetica Sectie Genoomdiagnostiek, CMM Groep Cuppen, Genetica, CMM Groep Kloosterman, Redin, Claire, Brand, Harrison, Collins, Ryan L, Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C, Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M, Abbott, Mary-Alice, Abdul-Rahman, Omar A, Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L, Alkuraya, Fowzan S, An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F, Bartell, Tina, Bernstein, Jonathan A, Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M H F, Brilstra, Eva H, Brown, Chester W, Brüggenwirth, Hennie T, Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B, Cushing, Tom, David, Dezso, Deardorff, Matthew A, Dheedene, Annelies, D'Hooghe, Marc, de Vries, Bert B A, Earl, Dawn L, Ferguson, Heather L, Fisher, Heather, FitzPatrick, David R, Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T, Gliem, Troy, Grady, Margo, Graham, Brett H, Griffis, Cristin, Gripp, Karen W, Gropman, Andrea L, Hanson-Kahn, Andrea, Harris, David J, Hayden, Mark A, Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D, Hopkin, Robert J, Hubshman, Monika W, Innes, A Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C, Janssens, Sandra, Jewett, Tamison, Johnson, John P, Jongmans, Marjolijn C, Kahler, Stephen G, Koolen, David A, Korzelius, Jerome, Kroisel, Peter M, Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V, Li, Haibo, Li, Hong, Liao, Eric C, Lim, Cynthia, Lose, Edward J, Lucente, Diane, Macera, Michael J, Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L, Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W, Mendoza, Cinthya J Zepeda, Menten, Björn, Middelkamp, Sjors, Mikami, Liya R, Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E, Moya, Graciela, Nieuwint, Aggie W, Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P, Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Aguilar, Raul E Piña, Poddighe, Pino J, Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L P, Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R, Tagoe, Julia, Thakuria, Joseph V, van Bon, Bregje W, van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M, van Roosmalen, Markus J, Vergult, Sarah, Volker-Touw, Catharina M L, Warburton, Dorothy P, Waterman, Matthew J, Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A, Zori, Roberto T, Levy, Brynn, Brunner, Han G, de Leeuw, Nicole, Kloosterman, Wigard P, Thorland, Erik C, Morton, Cynthia C, Gusella, James F, Talkowski, Michael E, Genetica Klinische Genetica, Brain, CMM, Circulatory Health, Cancer, Child Health, Genetica Sectie Genoomdiagnostiek, CMM Groep Cuppen, Genetica, CMM Groep Kloosterman, Redin, Claire, Brand, Harrison, Collins, Ryan L, Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C, Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M, Abbott, Mary-Alice, Abdul-Rahman, Omar A, Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L, Alkuraya, Fowzan S, An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F, Bartell, Tina, Bernstein, Jonathan A, Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M H F, Brilstra, Eva H, Brown, Chester W, Brüggenwirth, Hennie T, Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B, Cushing, Tom, David, Dezso, Deardorff, Matthew A, Dheedene, Annelies, D'Hooghe, Marc, de Vries, Bert B A, Earl, Dawn L, Ferguson, Heather L, Fisher, Heather, FitzPatrick, David R, Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T, Gliem, Troy, Grady, Margo, Graham, Brett H, Griffis, Cristin, Gripp, Karen W, Gropman, Andrea L, Hanson-Kahn, Andrea, Harris, David J, Hayden, Mark A, Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D, Hopkin, Robert J, Hubshman, Monika W, Innes, A Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C, Janssens, Sandra, Jewett, Tamison, Johnson, John P, Jongmans, Marjolijn C, Kahler, Stephen G, Koolen, David A, Korzelius, Jerome, Kroisel, Peter M, Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V, Li, Haibo, Li, Hong, Liao, Eric C, Lim, Cynthia, Lose, Edward J, Lucente, Diane, Macera, Michael J, Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L, Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W, Mendoza, Cinthya J Zepeda, Menten, Björn, Middelkamp, Sjors, Mikami, Liya R, Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E, Moya, Graciela, Nieuwint, Aggie W, Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P, Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Aguilar, Raul E Piña, Poddighe, Pino J, Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L P, Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R, Tagoe, Julia, Thakuria, Joseph V, van Bon, Bregje W, van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M, van Roosmalen, Markus J, Vergult, Sarah, Volker-Touw, Catharina M L, Warburton, Dorothy P, Waterman, Matthew J, Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A, Zori, Roberto T, Levy, Brynn, Brunner, Han G, de Leeuw, Nicole, Kloosterman, Wigard P, Thorland, Erik C, Morton, Cynthia C, Gusella, James F, and Talkowski, Michael E

Published
2017

30. Loss of ADAM17 is associated with severe multiorgan dysfunction

Author

Bandsma, Robert HJ, Bandsma, Robert HJ, van Goor, Harry, Yourshaw, Michael, Horlings, Rudolf K, Jonkman, Marcel F, Schölvinck, Elisabeth H, Karrenbeld, Arend, Scheenstra, Rene, Kömhoff, Martin, Rump, Patrick, Koopman-Keemink, Yvonne, Nelson, Stanley F, Escher, Johanna C, Cutz, Ernest, Martín, Martín G, Bandsma, Robert HJ, Bandsma, Robert HJ, van Goor, Harry, Yourshaw, Michael, Horlings, Rudolf K, Jonkman, Marcel F, Schölvinck, Elisabeth H, Karrenbeld, Arend, Scheenstra, Rene, Kömhoff, Martin, Rump, Patrick, Koopman-Keemink, Yvonne, Nelson, Stanley F, Escher, Johanna C, Cutz, Ernest, and Martín, Martín G

Published
2015

31. Variants in CUL4B are associated with cerebral malformations.

Author

Vulto-van Silfhout, Anneke T, Vulto-van Silfhout, Anneke T, Nakagawa, Tadashi, Bahi-Buisson, Nadia, Haas, Stefan A, Hu, Hao, Bienek, Melanie, Vissers, Lisenka ELM, Gilissen, Christian, Tzschach, Andreas, Busche, Andreas, Müsebeck, Jörg, Rump, Patrick, Mathijssen, Inge B, Avela, Kristiina, Somer, Mirja, Doagu, Fatma, Philips, Anju K, Rauch, Anita, Baumer, Alessandra, Voesenek, Krysta, Poirier, Karine, Vigneron, Jacqueline, Amram, Daniel, Odent, Sylvie, Nawara, Magdalena, Obersztyn, Ewa, Lenart, Jacek, Charzewska, Agnieszka, Lebrun, Nicolas, Fischer, Ute, Nillesen, Willy M, Yntema, Helger G, Järvelä, Irma, Ropers, Hans-Hilger, de Vries, Bert BA, Brunner, Han G, van Bokhoven, Hans, Raymond, F Lucy, Willemsen, Michèl AAP, Chelly, Jamel, Xiong, Yue, Barkovich, A James, Kalscheuer, Vera M, Kleefstra, Tjitske, de Brouwer, Arjan PM, Vulto-van Silfhout, Anneke T, Vulto-van Silfhout, Anneke T, Nakagawa, Tadashi, Bahi-Buisson, Nadia, Haas, Stefan A, Hu, Hao, Bienek, Melanie, Vissers, Lisenka ELM, Gilissen, Christian, Tzschach, Andreas, Busche, Andreas, Müsebeck, Jörg, Rump, Patrick, Mathijssen, Inge B, Avela, Kristiina, Somer, Mirja, Doagu, Fatma, Philips, Anju K, Rauch, Anita, Baumer, Alessandra, Voesenek, Krysta, Poirier, Karine, Vigneron, Jacqueline, Amram, Daniel, Odent, Sylvie, Nawara, Magdalena, Obersztyn, Ewa, Lenart, Jacek, Charzewska, Agnieszka, Lebrun, Nicolas, Fischer, Ute, Nillesen, Willy M, Yntema, Helger G, Järvelä, Irma, Ropers, Hans-Hilger, de Vries, Bert BA, Brunner, Han G, van Bokhoven, Hans, Raymond, F Lucy, Willemsen, Michèl AAP, Chelly, Jamel, Xiong, Yue, Barkovich, A James, Kalscheuer, Vera M, Kleefstra, Tjitske, and de Brouwer, Arjan PM

Abstract

Variants in cullin 4B (CUL4B) are a known cause of syndromic X-linked intellectual disability. Here, we describe an additional 25 patients from 11 families with variants in CUL4B. We identified nine different novel variants in these families and confirmed the pathogenicity of all nontruncating variants. Neuroimaging data, available for 15 patients, showed the presence of cerebral malformations in ten patients. The cerebral anomalies comprised malformations of cortical development (MCD), ventriculomegaly, and diminished white matter volume. The phenotypic heterogeneity of the cerebral malformations might result from the involvement of CUL-4B in various cellular pathways essential for normal brain development. Accordingly, we show that CUL-4B interacts with WDR62, a protein in which variants were previously identified in patients with microcephaly and a wide range of MCD. This interaction might contribute to the development of cerebral malformations in patients with variants in CUL4B.

Published
2015

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