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1. Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

Author

Rots, Dmitrijs, Choufani, Sanaa, Faundes, Victor, Dingemans, Alexander J.M., Joss, Shelagh, Foulds, Nicola, Jones, Elizabeth A., Stewart, Sarah, Vasudevan, Pradeep, Dabir, Tabib, Park, Soo-Mi, Jewell, Rosalyn, Brown, Natasha, Pais, Lynn, Jacquemont, Sébastien, Jizi, Khadijé, Ravenswaaij-Arts, Conny M.A. van, Kroes, Hester Y., Stumpel, Constance T.R. M., Ockeloen, Charlotte W., Diets, Illja J., Nizon, Mathilde, Vincent, Marie, Cogné, Benjamin, Besnard, Thomas, Kambouris, Marios, Anderson, Emily, Zackai, Elaine H., McDougall, Carey, Donoghue, Sarah, O'Donnell-Luria, Anne, Valivullah, Zaheer, O'Leary, Melanie, Srivastava, Siddharth, Byers, Heather, Leslie, Nancy, Mazzola, Sarah, Tiller, George E., Vera, Moin, Shen, Joseph J., Boles, Richard, Jain, Vani, Brischoux-Boucher, Elise, Kinning, Esther, Simpson, Brittany N., Giltay, Jacques C., Harris, Jacqueline, Keren, Boris, Guimier, Anne, Marijon, Pierre, Vries, Bert B.A. de, Motter, Constance S., Mendelsohn, Bryce A., Coffino, Samantha, Gerkes, Erica H., Afenjar, Alexandra, Visconti, Paola, Bacchelli, Elena, Maestrini, Elena, Delahaye-Duriez, Andree, Gooch, Catherine, Hendriks, Yvonne, Adams, Hieab, Thauvin-Robinet, Christel, Josephi-Taylor, Sarah, Bertoli, Marta, Parker, Michael J., Rutten, Julie W., Caluseriu, Oana, Vernon, Hilary J., Kaziyev, Jonah, Zhu, Jia, Kremen, Jessica, Frazier, Zoe, Osika, Hailey, Breault, David, Nair, Sreelata, Lewis, Suzanne M.E., Ceroni, Fabiola, Viggiano, Marta, Posar, Annio, Brittain, Helen, Giovanna, Traficante, Giulia, Gori, Quteineh, Lina, Ha-Vinh Leuchter, Russia, Zonneveld-Huijssoon, Evelien, Mellado, Cecilia, Marey, Isabelle, Coudert, Alicia, Aracena Alvarez, Mariana Inés, Kennis, Milou G.P., Bouman, Arianne, Roifman, Maian, Amorós Rodríguez, María Inmaculada, Ortigoza-Escobar, Juan Dario, Vernimmen, Vivian, Sinnema, Margje, Pfundt, Rolph, Brunner, Han G., Vissers, Lisenka E.L.M., Kleefstra, Tjitske, Weksberg, Rosanna, and Banka, Siddharth

Published
2024
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2. PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

Author

Dingemans, Alexander J. M., Hinne, Max, Truijen, Kim M. G., Goltstein, Lia, van Reeuwijk, Jeroen, de Leeuw, Nicole, Schuurs-Hoeijmakers, Janneke, Pfundt, Rolph, Diets, Illja J., den Hoed, Joery, de Boer, Elke, Coenen-van der Spek, Jet, Jansen, Sandra, van Bon, Bregje W., Jonis, Noraly, Ockeloen, Charlotte W., Vulto-van Silfhout, Anneke T., Kleefstra, Tjitske, Koolen, David A., Campeau, Philippe M., Palmer, Elizabeth E., Van Esch, Hilde, Lyon, Gholson J., Alkuraya, Fowzan S., Rauch, Anita, Marom, Ronit, Baralle, Diana, van der Sluijs, Pleuntje J., Santen, Gijs W. E., Kooy, R. Frank, van Gerven, Marcel A. J., Vissers, Lisenka E. L. M., and de Vries, Bert B. A.

Published
2023
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3. USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms

Author

Genetica Klinische Genetica, Koch, Intisar, Slovik, Maya, Zhang, Yuling, Liu, Bingyu, Rennie, Martin, Konz, Emily, Cogne, Benjamin, Daana, Muhannad, Davids, Laura, Diets, Illja J, Gold, Nina B, Holtz, Alexander M, Isidor, Bertrand, Mor-Shaked, Hagar, Neira Fresneda, Juanita, Niederhoffer, Karen Y, Nizon, Mathilde, Pfundt, Rolph, Simon, Meh, Stegmann, Apa, Guillen Sacoto, Maria J, Wevers, Marijke, Barakat, Tahsin Stefan, Yanovsky-Dagan, Shira, Atanassov, Boyko S, Toth, Rachel, Gao, Chengjiang, Bustos, Francisco, Harel, Tamar, Genetica Klinische Genetica, Koch, Intisar, Slovik, Maya, Zhang, Yuling, Liu, Bingyu, Rennie, Martin, Konz, Emily, Cogne, Benjamin, Daana, Muhannad, Davids, Laura, Diets, Illja J, Gold, Nina B, Holtz, Alexander M, Isidor, Bertrand, Mor-Shaked, Hagar, Neira Fresneda, Juanita, Niederhoffer, Karen Y, Nizon, Mathilde, Pfundt, Rolph, Simon, Meh, Stegmann, Apa, Guillen Sacoto, Maria J, Wevers, Marijke, Barakat, Tahsin Stefan, Yanovsky-Dagan, Shira, Atanassov, Boyko S, Toth, Rachel, Gao, Chengjiang, Bustos, Francisco, and Harel, Tamar

Published
2024

4. Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

Author

Staf strategisch beleid, Genetica Klinische Genetica, Child Health, Rots, Dmitrijs, Choufani, Sanaa, Faundes, Victor, Dingemans, Alexander J.M., Joss, Shelagh, Foulds, Nicola, Jones, Elizabeth A., Stewart, Sarah, Vasudevan, Pradeep, Dabir, Tabib, Park, Soo Mi, Jewell, Rosalyn, Brown, Natasha, Pais, Lynn, Jacquemont, Sébastien, Jizi, Khadijé, Ravenswaaij-Arts, Conny M.A.van, Kroes, Hester Y., Stumpel, Constance T.R.M., Ockeloen, Charlotte W., Diets, Illja J., Nizon, Mathilde, Vincent, Marie, Cogné, Benjamin, Besnard, Thomas, Kambouris, Marios, Anderson, Emily, Zackai, Elaine H., McDougall, Carey, Donoghue, Sarah, O'Donnell-Luria, Anne, Valivullah, Zaheer, O'Leary, Melanie, Srivastava, Siddharth, Byers, Heather, Leslie, Nancy, Mazzola, Sarah, Tiller, George E., Vera, Moin, Shen, Joseph J., Boles, Richard, Jain, Vani, Brischoux-Boucher, Elise, Kinning, Esther, Simpson, Brittany N., Giltay, Jacques C., Harris, Jacqueline, Keren, Boris, Guimier, Anne, Marijon, Pierre, de Vries, Bert B.A., Motter, Constance S., Mendelsohn, Bryce A., Coffino, Samantha, Gerkes, Erica H., Afenjar, Alexandra, Visconti, Paola, Bacchelli, Elena, Maestrini, Elena, Delahaye-Duriez, Andree, Gooch, Catherine, Hendriks, Yvonne, Adams, Hieab, Thauvin-Robinet, Christel, Josephi-Taylor, Sarah, Bertoli, Marta, Parker, Michael J., Rutten, Julie W., Caluseriu, Oana, Vernon, Hilary J., Kaziyev, Jonah, Zhu, Jia, Kremen, Jessica, Frazier, Zoe, Osika, Hailey, Breault, David, Nair, Sreelata, Lewis, Suzanne M.E., Ceroni, Fabiola, Viggiano, Marta, Posar, Annio, Brittain, Helen, Giovanna, Traficante, Giulia, Gori, Quteineh, Lina, Ha-Vinh Leuchter, Russia, Zonneveld-Huijssoon, Evelien, Mellado, Cecilia, Marey, Isabelle, Coudert, Alicia, Aracena Alvarez, Mariana Inés, Kennis, Milou G.P., Bouman, Arianne, Roifman, Maian, Amorós Rodríguez, María Inmaculada, Ortigoza-Escobar, Juan Dario, Vernimmen, Vivian, Sinnema, Margje, Pfundt, Rolph, Brunner, Han G., Vissers, Lisenka E.L.M., Kleefstra, Tjitske, Weksberg, Rosanna, Banka, Siddharth, Staf strategisch beleid, Genetica Klinische Genetica, Child Health, Rots, Dmitrijs, Choufani, Sanaa, Faundes, Victor, Dingemans, Alexander J.M., Joss, Shelagh, Foulds, Nicola, Jones, Elizabeth A., Stewart, Sarah, Vasudevan, Pradeep, Dabir, Tabib, Park, Soo Mi, Jewell, Rosalyn, Brown, Natasha, Pais, Lynn, Jacquemont, Sébastien, Jizi, Khadijé, Ravenswaaij-Arts, Conny M.A.van, Kroes, Hester Y., Stumpel, Constance T.R.M., Ockeloen, Charlotte W., Diets, Illja J., Nizon, Mathilde, Vincent, Marie, Cogné, Benjamin, Besnard, Thomas, Kambouris, Marios, Anderson, Emily, Zackai, Elaine H., McDougall, Carey, Donoghue, Sarah, O'Donnell-Luria, Anne, Valivullah, Zaheer, O'Leary, Melanie, Srivastava, Siddharth, Byers, Heather, Leslie, Nancy, Mazzola, Sarah, Tiller, George E., Vera, Moin, Shen, Joseph J., Boles, Richard, Jain, Vani, Brischoux-Boucher, Elise, Kinning, Esther, Simpson, Brittany N., Giltay, Jacques C., Harris, Jacqueline, Keren, Boris, Guimier, Anne, Marijon, Pierre, de Vries, Bert B.A., Motter, Constance S., Mendelsohn, Bryce A., Coffino, Samantha, Gerkes, Erica H., Afenjar, Alexandra, Visconti, Paola, Bacchelli, Elena, Maestrini, Elena, Delahaye-Duriez, Andree, Gooch, Catherine, Hendriks, Yvonne, Adams, Hieab, Thauvin-Robinet, Christel, Josephi-Taylor, Sarah, Bertoli, Marta, Parker, Michael J., Rutten, Julie W., Caluseriu, Oana, Vernon, Hilary J., Kaziyev, Jonah, Zhu, Jia, Kremen, Jessica, Frazier, Zoe, Osika, Hailey, Breault, David, Nair, Sreelata, Lewis, Suzanne M.E., Ceroni, Fabiola, Viggiano, Marta, Posar, Annio, Brittain, Helen, Giovanna, Traficante, Giulia, Gori, Quteineh, Lina, Ha-Vinh Leuchter, Russia, Zonneveld-Huijssoon, Evelien, Mellado, Cecilia, Marey, Isabelle, Coudert, Alicia, Aracena Alvarez, Mariana Inés, Kennis, Milou G.P., Bouman, Arianne, Roifman, Maian, Amorós Rodríguez, María Inmaculada, Ortigoza-Escobar, Juan Dario, Vernimmen, Vivian, Sinnema, Margje, Pfundt, Rolph, Brunner, Han G., Vissers, Lisenka E.L.M., Kleefstra, Tjitske, Weksberg, Rosanna, and Banka, Siddharth

Published
2024

5. USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms

Author

Koch, Intisar, Slovik, Maya, Zhang, Yuling, Liu, Bingyu, Rennie, Martin, Konz, Emily, Cogne, Benjamin, Daana, Muhannad, Davids, Laura, Diets, Illja J., Gold, Nina B., Holtz, Alexander M., Isidor, Bertrand, Mor-Shaked, Hagar, Neira Fresneda, Juanita, Niederhoffer, Karen Y., Nizon, Mathilde, Pfundt, Rolph, Simon, Meh, Stegmann, Apa, Guillen Sacoto, Maria J., Wevers, Marijke, Barakat, Tahsin Stefan, Yanovsky-Dagan, Shira, Atanassov, Boyko S., Toth, Rachel, Gao, Chengjiang, Bustos, Francisco, Harel, Tamar, Koch, Intisar, Slovik, Maya, Zhang, Yuling, Liu, Bingyu, Rennie, Martin, Konz, Emily, Cogne, Benjamin, Daana, Muhannad, Davids, Laura, Diets, Illja J., Gold, Nina B., Holtz, Alexander M., Isidor, Bertrand, Mor-Shaked, Hagar, Neira Fresneda, Juanita, Niederhoffer, Karen Y., Nizon, Mathilde, Pfundt, Rolph, Simon, Meh, Stegmann, Apa, Guillen Sacoto, Maria J., Wevers, Marijke, Barakat, Tahsin Stefan, Yanovsky-Dagan, Shira, Atanassov, Boyko S., Toth, Rachel, Gao, Chengjiang, Bustos, Francisco, and Harel, Tamar

Abstract

Neurodevelopmental disorders with intellectual disability (ND/ID) are a heterogeneous group of diseases driving lifelong deficits in cognition and behavior with no definitive cure. X-linked intellectual disability disorder 105 (XLID105, #300984; OMIM) is a ND/ID driven by hemizygous variants in the USP27X gene encoding a protein deubiquitylase with a role in cell proliferation and neural development. Currently, only four genetically diagnosed individuals from two unrelated families have been described with limited clinical data. Furthermore, the mechanisms underlying the disorder are unknown. Here, we report 10 new XLID105 individuals from nine families and determine the impact of gene variants on USP27X protein function. Using a combination of clinical genetics, bioinformatics, biochemical, and cell biology approaches, we determined that XLID105 variants alter USP27X protein biology via distinct mechanisms including changes in developmentally relevant protein-protein interactions and deubiquitylating activity. Our data better define the phenotypic spectrum of XLID105 and suggest that XLID105 is driven by USP27X functional disruption. Understanding the pathogenic mechanisms of XLID105 variants will provide molecular insight into USP27X biology and may create the potential for therapy development.

Published
2024

6. USP27Xvariants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms

Author

Koch, Intisar, primary, Slovik, Maya, additional, Zhang, Yuling, additional, Liu, Bingyu, additional, Rennie, Martin, additional, Konz, Emily, additional, Cogne, Benjamin, additional, Daana, Muhannad, additional, Davids, Laura, additional, Diets, Illja J, additional, Gold, Nina B, additional, Holtz, Alexander M, additional, Isidor, Bertrand, additional, Mor-Shaked, Hagar, additional, Neira Fresneda, Juanita, additional, Niederhoffer, Karen Y, additional, Nizon, Mathilde, additional, Pfundt, Rolph, additional, Simon, MEH, additional, Stegmann, APA, additional, Guillen Sacoto, Maria J, additional, Wevers, Marijke, additional, Barakat, Tahsin Stefan, additional, Yanovsky-Dagan, Shira, additional, Atanassov, Boyko S, additional, Toth, Rachel, additional, Gao, Chengjiang, additional, Bustos, Francisco, additional, and Harel, Tamar, additional

Published
2024
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7. Supplementary Appendix 2 from High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer

Author

Diets, Illja J., primary, Waanders, Esmé, primary, Ligtenberg, Marjolijn J., primary, van Bladel, Diede A.G., primary, Kamping, Eveline J., primary, Hoogerbrugge, Peter M., primary, Hopman, Saskia, primary, Olderode-Berends, Maran J., primary, Gerkes, Erica H., primary, Koolen, David A., primary, Marcelis, Carlo, primary, Santen, Gijs W., primary, van Belzen, Martine J., primary, Mordaunt, Dylan, primary, McGregor, Lesley, primary, Thompson, Elizabeth, primary, Kattamis, Antonis, primary, Pastorczak, Agata, primary, Mlynarski, Wojciech, primary, Ilencikova, Denisa, primary, van Silfhout, Anneke Vulto-, primary, Gardeitchik, Thatjana, primary, de Bont, Eveline S., primary, Loeffen, Jan, primary, Wagner, Anja, primary, Mensenkamp, Arjen R., primary, Kuiper, Roland P., primary, Hoogerbrugge, Nicoline, primary, and Jongmans, Marjolijn C., primary

Published
2023
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8. Supplementary Appendix 1 from High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer

Author

Diets, Illja J., primary, Waanders, Esmé, primary, Ligtenberg, Marjolijn J., primary, van Bladel, Diede A.G., primary, Kamping, Eveline J., primary, Hoogerbrugge, Peter M., primary, Hopman, Saskia, primary, Olderode-Berends, Maran J., primary, Gerkes, Erica H., primary, Koolen, David A., primary, Marcelis, Carlo, primary, Santen, Gijs W., primary, van Belzen, Martine J., primary, Mordaunt, Dylan, primary, McGregor, Lesley, primary, Thompson, Elizabeth, primary, Kattamis, Antonis, primary, Pastorczak, Agata, primary, Mlynarski, Wojciech, primary, Ilencikova, Denisa, primary, van Silfhout, Anneke Vulto-, primary, Gardeitchik, Thatjana, primary, de Bont, Eveline S., primary, Loeffen, Jan, primary, Wagner, Anja, primary, Mensenkamp, Arjen R., primary, Kuiper, Roland P., primary, Hoogerbrugge, Nicoline, primary, and Jongmans, Marjolijn C., primary

Published
2023
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9. PhenoScore: AI-based phenomics to quantify rare disease and genetic variation

Author

Dingemans, Alexander J M, primary, Hinne, Max, additional, Truijen, Kim M G, additional, Goltstein, Lia, additional, van Reeuwijk, Jeroen, additional, de Leeuw, Nicole, additional, Schuurs-Hoeijmakers, Janneke, additional, Pfundt, Rolph, additional, Diets, Illja J, additional, den Hoed, Joery, additional, de Boer, Elke, additional, Coenen-van der Spek, Jet, additional, Jansen, Sandra, additional, van Bon, Bregje W, additional, Jonis, Noraly, additional, Ockeloen, Charlotte, additional, Vulto-van Silfhout, Anneke T, additional, Kleefstra, Tjitske, additional, Koolen, David A, additional, Van Esch, Hilde, additional, Lyon, Gholson J, additional, Alkuraya, Fowzan S, additional, Rauch, Anita, additional, Marom, Ronit, additional, Baralle, Diana, additional, van der Sluijs, Pleuntje J, additional, Santen, Gijs W E, additional, Kooy, R Frank, additional, van Gerven, Marcel A J, additional, Vissers, Lisenka E L M, additional, and de Vries, Bert B A, additional

Published
2022
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10. USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms.

Author

Koch I, Slovik M, Zhang Y, Liu B, Rennie M, Konz E, Cogne B, Daana M, Davids L, Diets IJ, Gold NB, Holtz AM, Isidor B, Mor-Shaked H, Neira Fresneda J, Niederhoffer KY, Nizon M, Pfundt R, Simon M, Stegmann A, Guillen Sacoto MJ, Wevers M, Barakat TS, Yanovsky-Dagan S, Atanassov BS, Toth R, Gao C, Bustos F, and Harel T

Subjects
Humans, Cell Proliferation, Computational Biology, Neurogenesis, Intellectual Disability genetics, Mental Retardation, X-Linked genetics
Abstract

Neurodevelopmental disorders with intellectual disability (ND/ID) are a heterogeneous group of diseases driving lifelong deficits in cognition and behavior with no definitive cure. X-linked intellectual disability disorder 105 (XLID105, #300984; OMIM) is a ND/ID driven by hemizygous variants in the USP27X gene encoding a protein deubiquitylase with a role in cell proliferation and neural development. Currently, only four genetically diagnosed individuals from two unrelated families have been described with limited clinical data. Furthermore, the mechanisms underlying the disorder are unknown. Here, we report 10 new XLID105 individuals from nine families and determine the impact of gene variants on USP27X protein function. Using a combination of clinical genetics, bioinformatics, biochemical, and cell biology approaches, we determined that XLID105 variants alter USP27X protein biology via distinct mechanisms including changes in developmentally relevant protein-protein interactions and deubiquitylating activity. Our data better define the phenotypic spectrum of XLID105 and suggest that XLID105 is driven by USP27X functional disruption. Understanding the pathogenic mechanisms of XLID105 variants will provide molecular insight into USP27X biology and may create the potential for therapy development., (© 2024 Koch et al.)

Published
2024
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