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151. Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors

Author

Mishra-Gorur, Ketu, primary, Çağlayan, Ahmet Okay, additional, Schaffer, Ashleigh E., additional, Chabu, Chiswili, additional, Henegariu, Octavian, additional, Vonhoff, Fernando, additional, Akgümüş, Gözde Tuğce, additional, Nishimura, Sayoko, additional, Han, Wenqi, additional, Tu, Shu, additional, Baran, Burçin, additional, Gümüş, Hakan, additional, Dilber, Cengiz, additional, Zaki, Maha S., additional, Hossni, Heba A.A., additional, Rivière, Jean-Baptiste, additional, Kayserili, Hülya, additional, Spencer, Emily G., additional, Rosti, Rasim Ö., additional, Schroth, Jana, additional, Per, Hüseyin, additional, Çağlar, Caner, additional, Çağlar, Çağri, additional, Dölen, Duygu, additional, Baranoski, Jacob F., additional, Kumandaş, Sefer, additional, Minja, Frank J., additional, Erson-Omay, E. Zeynep, additional, Mane, Shrikant M., additional, Lifton, Richard P., additional, Xu, Tian, additional, Keshishian, Haig, additional, Dobyns, William B., additional, Chi, Neil C., additional, Šestan, Nenad, additional, Louvi, Angeliki, additional, Bilgüvar, Kaya, additional, Yasuno, Katsuhito, additional, Gleeson, Joseph G., additional, and Günel, Murat, additional

Published
2015
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152. A TUI Platform for your Desktop

Author

Raymond, Felix, primary, Semelle, Loic, additional, Courtois, Mathieu, additional, Kervegant, Cedric, additional, Graeff, Delphine, additional, Castet, Julien, additional, and de la Rivière, Jean-Baptiste, additional

Published
2015
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153. Silhouettes pour le suivi temps réel basé modèle

Author

de La Rivière, Jean-Baptiste, Guitton, Pascal, Guitton, Pascal, Laboratoire Bordelais de Recherche en Informatique (LaBRI), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-École Nationale Supérieure d'Électronique, Informatique et Radiocommunications de Bordeaux (ENSEIRB), Visualization and manipulation of complex data on wireless mobile devices (IPARLA ), Centre National de la Recherche Scientifique (CNRS)-École Nationale Supérieure d'Électronique, Informatique et Radiocommunications de Bordeaux (ENSEIRB)-Inria Bordeaux - Sud-Ouest, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Université Sciences et Technologies - Bordeaux 1, Université de Bordeaux (UB)-École Nationale Supérieure d'Électronique, Informatique et Radiocommunications de Bordeaux (ENSEIRB)-Centre National de la Recherche Scientifique (CNRS), Université Sciences et Technologies - Bordeaux 1 (UB)-Inria Bordeaux - Sud-Ouest, and Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-École Nationale Supérieure d'Électronique, Informatique et Radiocommunications de Bordeaux (ENSEIRB)-Centre National de la Recherche Scientifique (CNRS)

Subjects
[INFO.INFO-OH] Computer Science [cs]/Other [cs.OH], [INFO.INFO-OH]Computer Science [cs]/Other [cs.OH], ComputingMilieux_MISCELLANEOUS
Abstract

National audience

Published
2004

154. Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma

Author

Courcet, Jean- Benoît, primary, Elalaoui, Siham Chafai, additional, Duplomb, Laurence, additional, Tajir, Mariam, additional, Rivière, Jean-Baptiste, additional, Thevenon, Julien, additional, Gigot, Nadège, additional, Marle, Nathalie, additional, Aral, Bernard, additional, Duffourd, Yannis, additional, Sarasin, Alain, additional, Naim, Valeria, additional, Courcet-Degrolard, Emilie, additional, Aubriot-Lorton, Marie- Hélène, additional, Martin, Laurent, additional, Abrid, Jamal Eddin, additional, Thauvin, Christel, additional, Sefiani, Abdelaziz, additional, Vabres, Pierre, additional, and Faivre, Laurence, additional

Published
2014
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155. Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

Author

Verloes, Alain, primary, Di Donato, Nataliya, additional, Masliah-Planchon, Julien, additional, Jongmans, Marjolijn, additional, Abdul-Raman, Omar A, additional, Albrecht, Beate, additional, Allanson, Judith, additional, Brunner, Han, additional, Bertola, Debora, additional, Chassaing, Nicolas, additional, David, Albert, additional, Devriendt, Koen, additional, Eftekhari, Pirayeh, additional, Drouin-Garraud, Valérie, additional, Faravelli, Francesca, additional, Faivre, Laurence, additional, Giuliano, Fabienne, additional, Guion Almeida, Leina, additional, Juncos, Jorge, additional, Kempers, Marlies, additional, Eker, Hatice Koçak, additional, Lacombe, Didier, additional, Lin, Angela, additional, Mancini, Grazia, additional, Melis, Daniela, additional, Lourenço, Charles Marques, additional, Siu, Victoria Mok, additional, Morin, Gilles, additional, Nezarati, Marjan, additional, Nowaczyk, Malgorzata J M, additional, Ramer, Jeanette C, additional, Osimani, Sara, additional, Philip, Nicole, additional, Pierpont, Mary Ella, additional, Procaccio, Vincent, additional, Roseli, Zeichi-Seide, additional, Rossi, Massimiliano, additional, Rusu, Cristina, additional, Sznajer, Yves, additional, Templin, Ludivine, additional, Uliana, Vera, additional, Klaus, Mirjam, additional, Van Bon, Bregje, additional, Van Ravenswaaij, Conny, additional, Wainer, Bruce, additional, Fry, Andrew E, additional, Rump, Andreas, additional, Hoischen, Alexander, additional, Drunat, Séverine, additional, Rivière, Jean-Baptiste, additional, Dobyns, William B, additional, and Pilz, Daniela T, additional

Published
2014
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156. Hand posture recognition in large display VR environments

Author

de La Rivière, Jean-Baptiste, Guitton, Pascal, Laboratoire Bordelais de Recherche en Informatique (LaBRI), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-École Nationale Supérieure d'Électronique, Informatique et Radiocommunications de Bordeaux (ENSEIRB), Visualization and manipulation of complex data on wireless mobile devices (IPARLA ), Centre National de la Recherche Scientifique (CNRS)-École Nationale Supérieure d'Électronique, Informatique et Radiocommunications de Bordeaux (ENSEIRB)-Inria Bordeaux - Sud-Ouest, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Université Sciences et Technologies - Bordeaux 1, Université de Bordeaux (UB)-École Nationale Supérieure d'Électronique, Informatique et Radiocommunications de Bordeaux (ENSEIRB)-Centre National de la Recherche Scientifique (CNRS), Université Sciences et Technologies - Bordeaux 1 (UB)-Inria Bordeaux - Sud-Ouest, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-École Nationale Supérieure d'Électronique, Informatique et Radiocommunications de Bordeaux (ENSEIRB)-Centre National de la Recherche Scientifique (CNRS), and Guitton, Pascal

Subjects
[INFO.INFO-OH] Computer Science [cs]/Other [cs.OH], [INFO.INFO-OH]Computer Science [cs]/Other [cs.OH], ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2003

157. Touching the 3rd Dimension (Dagstuhl Seminar 12151)

Author

Daniel Keefe and Antonio Krüger and Frank Steinicke and Jean-Baptiste de la Rivière, Keefe, Daniel, Krüger, Antonio, Steinicke, Frank, de la Rivière, Jean-Baptiste, Daniel Keefe and Antonio Krüger and Frank Steinicke and Jean-Baptiste de la Rivière, Keefe, Daniel, Krüger, Antonio, Steinicke, Frank, and de la Rivière, Jean-Baptiste

Abstract

In recent years interactive visualization of 3D data has become important and widespread due to the requirements of several application areas. However, current user interfaces often lack adequate support for 3D interactions: 2D desktop systems are often limited in cases where natural interaction with 3D content is required, and 3D user interfaces consisting of stereoscopic projections and tracked input devices are rarely adopted by ordinary users. Touch interaction has received considerable attention for 2D interfaces, and more recently for 3D interfaces. Many touch devices now support multiple degrees of freedom input by capturing multiple 2D contact positions on the surface as well as varying levels of pressure and even depth. There is great potential for multi-touch interfaces to provide the traditionally difficult to achieve combination of natural 3D interaction without any instrumentation. When combined with a stereoscopic display as well as depth cameras, we believe that multi-touch technology can form the basis for a next generation of 3D user interfaces. Several research groups have begun to explore the potential, limitations, and challenges of this and other 3D touch environments, and first commercial systems are already available. The goal of the seminar "Touching the 3rd Dimension (T3D)" is to address the research and industrial challenges involved in exploring the space where the flat digital world of surface computing meets the physical, spatially complex, 3D space in which we live. The seminar will provide a common forum to attract groups of conference attendees who share their visions of the future and recent results in the area of improving 3D interaction and visualization by taking advantage of the strengths of advanced multi-touch computing.

Published
2012
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158. Cohen syndrome is associated with major glycosylation defects

Author

Duplomb, Laurence, primary, Duvet, Sandrine, additional, Picot, Damien, additional, Jego, Gaëtan, additional, El Chehadeh-Djebbar, Salima, additional, Marle, Nathalie, additional, Gigot, Nadège, additional, Aral, Bernard, additional, Carmignac, Virginie, additional, Thevenon, Julien, additional, Lopez, Estelle, additional, Rivière, Jean-Baptiste, additional, Klein, André, additional, Philippe, Christophe, additional, Droin, Nathalie, additional, Blair, Edward, additional, Girodon, François, additional, Donadieu, Jean, additional, Bellanné-Chantelot, Christine, additional, Delva, Laurent, additional, Michalski, Jean-Claude, additional, Solary, Eric, additional, Faivre, Laurence, additional, Foulquier, François, additional, and Thauvin-Robinet, Christel, additional

Published
2013
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159. C5orf42 is the major gene responsible for OFD syndrome type VI

Author

Lopez, Estelle, primary, Thauvin-Robinet, Christel, additional, Reversade, Bruno, additional, Khartoufi, Nadia El, additional, Devisme, Louise, additional, Holder, Muriel, additional, Ansart-Franquet, Hélène, additional, Avila, Magali, additional, Lacombe, Didier, additional, Kleinfinger, Pascale, additional, Kaori, Irahara, additional, Takanashi, Jun-Ichi, additional, Le Merrer, Martine, additional, Martinovic, Jelena, additional, Noël, Catherine, additional, Shboul, Mohammad, additional, Ho, Lena, additional, Güven, Yeliz, additional, Razavi, Ferechté, additional, Burglen, Lydie, additional, Gigot, Nadège, additional, Darmency-Stamboul, Véronique, additional, Thevenon, Julien, additional, Aral, Bernard, additional, Kayserili, Hülya, additional, Huet, Frédéric, additional, Lyonnet, Stanislas, additional, Le Caignec, Cédric, additional, Franco, Brunella, additional, Rivière, Jean-Baptiste, additional, Faivre, Laurence, additional, and Attié-Bitach, Tania, additional

Published
2013
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160. Both Rare and De Novo Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria

Author

Sajan, Samin A., primary, Fernandez, Liliana, additional, Nieh, Sahar Esmaeeli, additional, Rider, Eric, additional, Bukshpun, Polina, additional, Wakahiro, Mari, additional, Christian, Susan L., additional, Rivière, Jean-Baptiste, additional, Sullivan, Christopher T., additional, Sudi, Jyotsna, additional, Herriges, Michael J., additional, Paciorkowski, Alexander R., additional, Barkovich, A. James, additional, Glessner, Joseph T., additional, Millen, Kathleen J., additional, Hakonarson, Hakon, additional, Dobyns, William B., additional, and Sherr, Elliott H., additional

Published
2013
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162. Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.

Author

Miguet, Marguerite, Thevenon, Julien, Laugel, Vincent, Lefebvre, Mathilde, Bourchany, Aurélie, Rivière, Jean‐Baptiste, Duffourd, Yannis, Schaefer, Elise, Antal, Maria Cristina, Abida, Rosalie, Weingertner, Anne‐Sophie, Kremer, Valérie, Vabres, Pierre, Morice‐Picard, Fanny, Gonzales, Marie, Lipsker, Dan, Fraitag, Sylvie, Mandel, Jean‐Louis, Chelly, Jamel, and Dollfus, Hélène

Abstract

What's Already Known About This Topic? Congenital ichthyosis is a condition that includes several distinct subtypes with significant genetic heterogeneity.Defects in the ERCC2 [xeroderma pigmentosum (XP) complementation group D] gene lead to one of several clinical diseases, including XP, trichothiodystrophy, cerebrooculofacioskeletal syndrome, XP/Cockayne syndrome, and XP/trichothiodystrophy.What Does This Study Add? This observation enlarges the phenotypic spectrum of ERCC2 (XP complementation group D) mutations to severe fetal cases and expands the molecular basis of congenital ichthyosis by reporting the prenatal expression of a very rare nucleotide excision repair‐related condition. [ABSTRACT FROM AUTHOR]

Published
2016
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163. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

Author

Rivière, Jean-Baptiste, primary, van Bon, Bregje W M, additional, Hoischen, Alexander, additional, Kholmanskikh, Stanislav S, additional, O'Roak, Brian J, additional, Gilissen, Christian, additional, Gijsen, Sabine, additional, Sullivan, Christopher T, additional, Christian, Susan L, additional, Abdul-Rahman, Omar A, additional, Atkin, Joan F, additional, Chassaing, Nicolas, additional, Drouin-Garraud, Valerie, additional, Fry, Andrew E, additional, Fryns, Jean-Pierre, additional, Gripp, Karen W, additional, Kempers, Marlies, additional, Kleefstra, Tjitske, additional, Mancini, Grazia M S, additional, Nowaczyk, Małgorzata J M, additional, van Ravenswaaij-Arts, Conny M A, additional, Roscioli, Tony, additional, Marble, Michael, additional, Rosenfeld, Jill A, additional, Siu, Victoria M, additional, de Vries, Bert B A, additional, Shendure, Jay, additional, Verloes, Alain, additional, Veltman, Joris A, additional, Brunner, Han G, additional, Ross, M Elizabeth, additional, Pilz, Daniela T, additional, and Dobyns, William B, additional

Published
2012
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165. Routine Clinically Detected Increased ROS1Transcripts Are Related With ROS1Expression by Immunohistochemistry and Associated With EGFRMutations in Lung Adenocarcinoma

Author

Grenier, Karl, Rivière, Jean-Baptiste, Bencheikh, Bouchra Ouled Amar, Corredor, Andrea Liliam Gomez, Shieh, Benjamin Christopher, Wang, Hangjun, Fiset, Pierre Olivier, and Camilleri-Broët, Sophie

Abstract

Translocations of the ROS1gene were found to drive tumorigenesis in 1% to 2% of lung adenocarcinoma.In clinical practice, ROS1rearrangements are often screened by immunohistochemistry (IHC) before confirmation with either fluorescence in situ hybridization or molecular techniques. This screening test leads to a non-negligible number of cases that have equivocal or positive ROS1 IHC, without ROS1translocation.

Published
2023
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166. Toucheo

Author

Hachet, Martin, primary, Bossavit, Benoit, additional, Cohé, Aurélie, additional, and de la Rivière, Jean-Baptiste, additional

Published
2011
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168. An immersive multitouch workspace

Author

Bossavit, Benoit, primary, de la Rivière, Jean-Baptiste, additional, Da Luz, Toni, additional, Courtois, Mathieu, additional, Kervegant, Cédric, additional, and Hachet, Martin, additional

Published
2011
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169. Touching the 3rd dimension (T3D)

Author

Steinicke, Frank, primary, Benko, Hrvoje, additional, Daiber, Florian, additional, Keefe, Daniel, additional, and de la Rivière, Jean-Baptiste, additional

Published
2011
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170. LINGO1 Variants in the French-Canadian Population

Author

Bourassa, Cynthia V., primary, Rivière, Jean-Baptiste, additional, Dion, Patrick A., additional, Bernard, Geneviève, additional, Diab, Sabrina, additional, Panisset, Michel, additional, Chouinard, Sylvain, additional, Dupré, Nicolas, additional, Fournier, Hélène, additional, Raelson, John, additional, Belouchi, Majid, additional, and Rouleau, Guy A., additional

Published
2011
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171. iliGHT 3D touch

Author

De la Rivière, Jean Baptiste, primary, Dittlo, Nicolas, additional, Orvain, Emmanuel, additional, Kervégant, Cédric, additional, Courtois, Mathieu, additional, and Da Luz, Toni, additional

Published
2010
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172. Holocubtile

Author

De la Rivière, Jean Baptiste, primary, Dittlo, Nicolas, additional, Orvain, Emmanuel, additional, Kervégant, Cédric, additional, and Courtois, Mathieu, additional

Published
2010
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173. 3D multitouch

Author

de la Rivière, Jean-Baptiste, primary, Kervégant, Cédric, additional, Dittlo, Nicolas, additional, Courtois, Mathieu, additional, and Orvain, Emmanuel, additional

Published
2010
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174. Mutations in DCC Cause Congenital Mirror Movements

Author

Srour, Myriam, primary, Rivière, Jean-Baptiste, additional, Pham, Jessica M. T., additional, Dubé, Marie-Pierre, additional, Girard, Simon, additional, Morin, Steves, additional, Dion, Patrick A., additional, Asselin, Géraldine, additional, Rochefort, Daniel, additional, Hince, Pascale, additional, Diab, Sabrina, additional, Sharafaddinzadeh, Naser, additional, Chouinard, Sylvain, additional, Théoret, Hugo, additional, Charron, Frédéric, additional, and Rouleau, Guy A., additional

Published
2010
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175. The cubtile

Author

de la Rivière, Jean-Baptiste, primary, Orvain, Emmanuel, additional, Kervégant, Cédric, additional, and Dittlo, Nicolas, additional

Published
2009
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177. Association of Intronic Variants of the BTBD9 Gene With Tourette Syndrome

Author

Rivière, Jean-Baptiste, primary, Xiong, Lan, additional, Levchenko, Anastasia, additional, St-Onge, Judith, additional, Gaspar, Claudia, additional, Dion, Yves, additional, Lespérance, Paul, additional, Tellier, Geneviève, additional, Richer, François, additional, Chouinard, Sylvain, additional, and Rouleau, Guy A., additional

Published
2009
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179. CubTile

Author

de la Rivière, Jean-Baptiste, primary, Kervégant, Cédric, additional, Orvain, Emmanuel, additional, and Dittlo, Nicolas, additional

Published
2008
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180. Genetic association studies of neurotensin gene and restless legs syndrome in French Canadians

Author

Xiong, Lan, primary, Levchenko, Anastasia, additional, Montplaisir, Jacques, additional, Rivière, Jean-Baptiste, additional, Thibodeau, Pascale, additional, St-Onge, Judith, additional, Gaspar, Claudia, additional, Desautels, Alex, additional, Lespérance, Paul, additional, Chouinard, Sylvain, additional, Turecki, Gustavo, additional, and Rouleau, Guy A., additional

Published
2008
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182. OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.

Author

Chevrier, Véronique, Bruel, Ange-Line, Van Dam, Teunis J. P., Franco, Brunella, Lo Scalzo, Melissa, Lembo, Frédérique, Audebert, Stéphane, Baudelet, Emilie, Isnardon, Daniel, Bole, Angélique, Borg, Jean-Paul, Kuentz, Paul, Thevenon, Julien, Burglen, Lydie, Faivre, Laurence, Rivière, Jean-Baptiste, Huynen, Martijn A., Birnbaum, Daniel, Rosnet, Olivier, and Thauvin-Robinet, Christel

Published
2016
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183. Molecular genetic studies of DMT1 on 12q in French‐Canadian restless legs syndrome patients and families

Author

Xiong, Lan, primary, Dion, Patrick, additional, Montplaisir, Jacques, additional, Levchenko, Anastasia, additional, Thibodeau, Pascale, additional, Karemera, Liliane, additional, Rivière, Jean‐Baptiste, additional, St‐Onge, Judith, additional, Gaspar, Claudia, additional, Dubé, Marie‐Pierre, additional, Desautels, Alex, additional, Turecki, Gustavo, additional, and Rouleau, Guy A., additional

Published
2007
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184. Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma.

Author

Courcet, Jean- Benoît, Elalaoui, Siham Chafai, Duplomb, Laurence, Tajir, Mariam, Rivière, Jean-Baptiste, Thevenon, Julien, Gigot, Nadège, Marle, Nathalie, Aral, Bernard, Duffourd, Yannis, Sarasin, Alain, Naim, Valeria, Courcet-Degrolard, Emilie, Aubriot-Lorton, Marie- Hélène, Martin, Laurent, Abrid, Jamal Eddin, Thauvin, Christel, Sefiani, Abdelaziz, Vabres, Pierre, and Faivre, Laurence

Subjects
HUMAN skin color genetics, SKIN cancer, PALMOPLANTAR keratoderma, TUMOR suppressor genes, NEOPLASTIC cell transformation
Abstract

SASH1 (SAM and SH3 domain-containing protein 1) is a tumor suppressor gene involved in the tumorigenesis of a spectrum of solid cancers. Heterozygous SASH1 variants are known to cause autosomal-dominant dyschromatosis. Homozygosity mapping and whole-exome sequencing were performed in a consanguineous Moroccan family with two affected siblings presenting an unclassified phenotype associating an abnormal pigmentation pattern (hypo- and hyperpigmented macules of the trunk and face and areas of reticular hypo- and hyperpigmentation of the extremities), alopecia, palmoplantar keratoderma, ungueal dystrophy and recurrent spinocellular carcinoma. We identified a homozygous variant in SASH1 (c.1849G>A; p.Glu617Lys) in both affected individuals. Wound-healing assay showed that the patient's fibroblasts were better able than control fibroblasts to migrate. Following the identification of SASH1 heterozygous variants in dyschromatosis, we used reverse phenotyping to show that autosomal-recessive variants of this gene could be responsible for an overlapping but more complex phenotype that affected skin appendages. SASH1 should be added to the list of genes responsible for autosomal-dominant and -recessive genodermatosis, with no phenotype in heterozygous patients in the recessive form, and to the list of genes responsible for a predisposition to skin cancer. [ABSTRACT FROM AUTHOR]

Published
2015
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185. PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.

Author

Jansen, Laura A, Mirzaa, Ghayda M, Ishak, Gisele E, O'Roak, Brian J, Hiatt, Joseph B, Roden, William H, Gunter, Sonya A, Christian, Susan L, Collins, Sarah, Adams, Carissa, Rivière, Jean-Baptiste, St-Onge, Judith, Ojemann, Jeffrey G, Shendure, Jay, Hevner, Robert F, and Dobyns, William B

Abstract

Malformations of cortical development containing dysplastic neuronal and glial elements, including hemimegalencephaly and focal cortical dysplasia, are common causes of intractable paediatric epilepsy. In this study we performed multiplex targeted sequencing of 10 genes in the PI3K/AKT pathway on brain tissue from 33 children who underwent surgical resection of dysplastic cortex for the treatment of intractable epilepsy. Sequencing results were correlated with clinical, imaging, pathological and immunohistological phenotypes. We identified mosaic activating mutations in PIK3CA and AKT3 in this cohort, including cancer-associated hotspot PIK3CA mutations in dysplastic megalencephaly, hemimegalencephaly, and focal cortical dysplasia type IIa. In addition, a germline PTEN mutation was identified in a male with hemimegalencephaly but no peripheral manifestations of the PTEN hamartoma tumour syndrome. A spectrum of clinical, imaging and pathological abnormalities was found in this cohort. While patients with more severe brain imaging abnormalities and systemic manifestations were more likely to have detected mutations, routine histopathological studies did not predict mutation status. In addition, elevated levels of phosphorylated S6 ribosomal protein were identified in both neurons and astrocytes of all hemimegalencephaly and focal cortical dysplasia type II specimens, regardless of the presence or absence of detected PI3K/AKT pathway mutations. In contrast, expression patterns of the T308 and S473 phosphorylated forms of AKT and in vitro AKT kinase activities discriminated between mutation-positive dysplasia cortex, mutation-negative dysplasia cortex, and non-dysplasia epilepsy cortex. Our findings identify PI3K/AKT pathway mutations as an important cause of epileptogenic brain malformations and establish megalencephaly, hemimegalencephaly, and focal cortical dysplasia as part of a single pathogenic spectrum. [ABSTRACT FROM AUTHOR]

Published
2015
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188. CAA insertion polymorphism in the 3′UTR of Nogo gene on 2p14 is not associated with schizophrenia

Author

Xiong, Lan, primary, Rouleau, Guy A., additional, DeLisi, Lynn E., additional, St-Onge, Judith, additional, Najafee, Robert, additional, Rivière, Jean-Baptiste, additional, Benkelfat, Chawki, additional, Tabbane, Karim, additional, Fathalli, Ferid, additional, Danics, Zoltan, additional, Labelle, Alain, additional, Lal, Samarthji, additional, and Joober, Ridha, additional

Published
2005
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191. The K–Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum

Author

Howard, Heidi C., primary, Mount, David B., additional, Rochefort, Daniel, additional, Byun, Nellie, additional, Dupré, Nicolas, additional, Lu, Jianming, additional, Fan, Xuemo, additional, Song, Luyan, additional, Rivière, Jean-Baptiste, additional, Prévost, Claude, additional, Horst, Jürgen, additional, Simonati, Alessandro, additional, Lemcke, Beate, additional, Welch, Rick, additional, England, Roger, additional, Zhan, Frank Q., additional, Mercado, Adriana, additional, Siesser, William B., additional, George, Alfred L., additional, McDonald, Michael P., additional, Bouchard, Jean-Pierre, additional, Mathieu, Jean, additional, Delpire, Eric, additional, and Rouleau, Guy A., additional

Published
2002
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192. Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition

Author

Kuechler, Alma, Czeschik, Johanna Christina, Graf, Elisabeth, Grasshoff, Ute, Hüffmeier, Ulrike, Busa, Tiffany, Beck-Woedl, Stefanie, Faivre, Laurence, Rivière, Jean-Baptiste, Bader, Ingrid, Koch, Johannes, Reis, André, Hehr, Ute, Rittinger, Olaf, Sperl, Wolfgang, Haack, Tobias B, Wieland, Thomas, Engels, Hartmut, Prokisch, Holger, Strom, Tim M, Lüdecke, Hermann-Josef, and Wieczorek, Dagmar

Abstract

Truncating ASXL3 mutations were first identified in 2013 by Bainbridge et al. as a cause of syndromic intellectual disability in four children with similar phenotypes using whole-exome sequencing. The clinical features – postulated by Bainbridge et al. to be overlapping with Bohring–Opitz syndrome – were developmental delay, severe feeding difficulties, failure to thrive and neurological abnormalities. This condition was included in OMIM as ‘Bainbridge–Ropers syndrome’ (BRPS, #615485). To date, a total of nine individuals with BRPS have been published in the literature in four reports (Bainbridge et al., Dinwiddie et al, Srivastava et al. and Hori et al.). In this report, we describe six unrelated patients with newly diagnosed heterozygous de novo loss-of-function variants in ASXL3 and concordant clinical features: severe muscular hypotonia with feeding difficulties in infancy, significant motor delay, profound speech impairment, intellectual disability and a characteristic craniofacial phenotype (long face, arched eyebrows with mild synophrys, downslanting palpebral fissures, prominent columella, small alae nasi, high, narrow palate and relatively little facial expression). The majority of key features characteristic for Bohring–Opitz syndrome were absent in our patients (eg, the typical posture of arms, intrauterine growth retardation, microcephaly, trigonocephaly, typical facial gestalt with nevus flammeus of the forehead and exophthalmos). Therefore we emphasize that BRPS syndrome, caused by ASXL3 loss-of-function variants, is a clinically distinct intellectual disability syndrome with a recognizable phenotype distinguishable from that of Bohring–Opitz syndrome.

Published
2017
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193. Expanding the clinical spectrum of recessive truncating mutations of KLHL7to a Bohring-Opitz-like phenotype

Author

Bruel, Ange-Line, Bigoni, Stefania, Kennedy, Joanna, Whiteford, Margo, Buxton, Chris, Parmeggiani, Giulia, Wherlock, Matt, Woodward, Geoff, Greenslade, Mark, Williams, Maggie, St-Onge, Judith, Ferlini, Alessandra, Garani, Giampaolo, Ballardini, Elisa, van Bon, Bregje W, Acuna-Hidalgo, Rocio, Bohring, Axel, Deleuze, Jean-Francois, Boland, Anne, Meyer, Vincent, Olaso, Robert, Ginglinger, Emmanuelle, Study, DDD, Rivière, Jean-Baptiste, Brunner, Han G, Hoischen, Alexander, Newbury-Ecob, Ruth, Faivre, Laurence, Thauvin-Robinet, Christel, and Thevenon, Julien

Abstract

BackgroundBohring-Opitz syndrome (BOS) is a rare genetic disorder characterised by a recognisable craniofacial appearance and a typical ‘BOS’ posture. BOS is caused by sporadic mutations ofASXL1. However, several typical patients with BOS have no molecular diagnosis, suggesting clinical and genetic heterogeneity.ObjectivesTo expand the phenotypical spectrum of autosomal recessive variants of KLHL7, reported as causing Crisponi syndrome/cold-induced sweating syndrome type 1 (CS/CISS1)-like syndrome.MethodsWe performed whole-exome sequencing in two families with a suspected recessive mode of inheritance. We used the Matchmaker Exchange initiative to identify additional patients.ResultsHere, we report six patients with microcephaly, facial dysmorphism, including exophthalmos, nevus flammeus of the glabella and joint contractures with a suspected BOS posture in five out of six patients. We identified autosomal recessive truncating mutations in the KLHL7gene. KLHL7encodes a BTB–kelch protein implicated in the cell cycle and in protein degradation by the ubiquitin–proteasome pathway. Recently, biallelic mutations in the KLHL7gene were reported in four families and associated with CS/CISS1, characterised by clinical features overlapping with our patients.ConclusionWe have expanded the clinical spectrum of KLHL7autosomal recessive variants by describing a syndrome with features overlapping CS/CISS1 and BOS.

Published
2017
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194. A de novomicrodeletion of SEMA5Ain a boy with autism spectrum disorder and intellectual disability

Author

Mosca-Boidron, Anne-Laure, Gueneau, Lucie, Huguet, Guillaume, Goldenberg, Alice, Henry, Céline, Gigot, Nadège, Pallesi-Pocachard, Emilie, Falace, Antonio, Duplomb, Laurence, Thevenon, Julien, Duffourd, Yannis, ST-Onge, Judith, Chambon, Pascal, Rivière, Jean-Baptiste, Thauvin-Robinet, Christel, Callier, Patrick, Marle, Nathalie, Payet, Muriel, Ragon, Clemence, Goubran Botros, Hany, Buratti, Julien, Calderari, Sophie, Dumas, Guillaume, Delorme, Richard, Lagarde, Nathalie, Pinoit, Jean-Michel, Rosier, Antoine, Masurel-Paulet, Alice, Cardoso, Carlos, Mugneret, Francine, Saugier-Veber, Pascale, Campion, Dominique, Faivre, Laurence, and Bourgeron, Thomas

Abstract

Semaphorins are a large family of secreted and membrane-associated proteins necessary for wiring of the brain. Semaphorin 5A (SEMA5A) acts as a bifunctional guidance cue, exerting both attractive and inhibitory effects on developing axons. Previous studies have suggested that SEMA5Acould be a susceptibility gene for autism spectrum disorders (ASDs). We first identified a de novotranslocation t(5;22)(p15.3;q11.21) in a patient with ASD and intellectual disability (ID). At the translocation breakpoint on chromosome 5, we observed a 861-kb deletion encompassing the end of the SEMA5Agene. We delineated the breakpoint by NGS and observed that no gene was disrupted on chromosome 22. We then used Sanger sequencing to search for deleterious variants affecting SEMA5Ain 142 patients with ASD. We also identified two independent heterozygous variants located in a conserved functional domain of the protein. Both variants were maternally inherited and predicted as deleterious. Our genetic screens identified the first case of a de novo SEMA5Amicrodeletion in a patient with ASD and ID. Although our study alone cannot formally associate SEMA5Awith susceptibility to ASD, it provides additional evidence that Semaphorin dysfunction could lead to ASD and ID. Further studies on Semaphorins are warranted to better understand the role of this family of genes in susceptibility to neurodevelopmental disorders.

Published
2016
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195. The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery

Author

Toriyama, Michinori, Lee, Chanjae, Taylor, S Paige, Duran, Ivan, Cohn, Daniel H, Bruel, Ange-Line, Tabler, Jacqueline M, Drew, Kevin, Kelly, Marcus R, Kim, Sukyoung, Park, Tae Joo, Braun, Daniela A, Pierquin, Ghislaine, Biver, Armand, Wagner, Kerstin, Malfroot, Anne, Panigrahi, Inusha, Franco, Brunella, Al-lami, Hadeel Adel, Yeung, Yvonne, Choi, Yeon Ja, Duffourd, Yannis, Faivre, Laurence, Rivière, Jean-Baptiste, Chen, Jiang, Liu, Karen J, Marcotte, Edward M, Hildebrandt, Friedhelm, Thauvin-Robinet, Christel, Krakow, Deborah, Jackson, Peter K, and Wallingford, John B

Abstract

Cilia use microtubule-based intraflagellar transport (IFT) to organize intercellular signaling. Ciliopathies are a spectrum of human diseases resulting from defects in cilia structure or function. The mechanisms regulating the assembly of ciliary multiprotein complexes and the transport of these complexes to the base of cilia remain largely unknown. Combining proteomics, in vivo imaging and genetic analysis of proteins linked to planar cell polarity (Inturned, Fuzzy and Wdpcp), we identified and characterized a new genetic module, which we term CPLANE (ciliogenesis and planar polarity effector), and an extensive associated protein network. CPLANE proteins physically and functionally interact with the poorly understood ciliopathy-associated protein Jbts17 at basal bodies, where they act to recruit a specific subset of IFT-A proteins. In the absence of CPLANE, defective IFT-A particles enter the axoneme and IFT-B trafficking is severely perturbed. Accordingly, mutation of CPLANE genes elicits specific ciliopathy phenotypes in mouse models and is associated with ciliopathies in human patients.

Published
2016
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196. Mosaic Activating Mutations in GNA11and GNAQAre Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis

Author

Thomas, Anna C., Zeng, Zhiqiang, Rivière, Jean-Baptiste, O’Shaughnessy, Ryan, Al-Olabi, Lara, St.-Onge, Judith, Atherton, David J., Aubert, Hélène, Bagazgoitia, Lorea, Barbarot, Sébastien, Bourrat, Emmanuelle, Chiaverini, Christine, Chong, W. Kling, Duffourd, Yannis, Glover, Mary, Groesser, Leopold, Hadj-Rabia, Smail, Hamm, Henning, Happle, Rudolf, Mushtaq, Imran, Lacour, Jean-Philippe, Waelchli, Regula, Wobser, Marion, Vabres, Pierre, Patton, E. Elizabeth, and Kinsler, Veronica A.

Abstract

Common birthmarks can be an indicator of underlying genetic disease but are often overlooked. Mongolian blue spots (dermal melanocytosis) are usually localized and transient, but they can be extensive, permanent, and associated with extracutaneous abnormalities. Co-occurrence with vascular birthmarks defines a subtype of phakomatosis pigmentovascularis, a group of syndromes associated with neurovascular, ophthalmological, overgrowth, and malignant complications. Here, we discover that extensive dermal melanocytosis and phakomatosis pigmentovascularis are associated with activating mutations in GNA11and GNAQ, genes that encode Gα subunits of heterotrimeric G proteins. The mutations were detected at very low levels in affected tissues but were undetectable in the blood, indicating that these conditions are postzygotic mosaic disorders. In vitro expression of mutant GNA11R183Cand GNA11Q209Lin human cell lines demonstrated activation of the downstream p38 MAPK signaling pathway and the p38, JNK, and ERK pathways, respectively. Transgenic mosaic zebrafish models expressing mutant GNA11R183Cunder promoter mitfadeveloped extensive dermal melanocytosis recapitulating the human phenotype. Phakomatosis pigmentovascularis and extensive dermal melanocytosis are therefore diagnoses in the group of mosaic heterotrimeric G-protein disorders, joining McCune-Albright and Sturge-Weber syndromes. These findings will allow accurate clinical and molecular diagnosis of this subset of common birthmarks, thereby identifying infants at risk for serious complications, and provide novel therapeutic opportunities.

Published
2016
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197. De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.

Author

Mirzaa, Ghayda M, Parry, David A, Fry, Andrew E, Giamanco, Kristin A, Schwartzentruber, Jeremy, Vanstone, Megan, Logan, Clare V, Roberts, Nicola, Johnson, Colin A, Singh, Shawn, Kholmanskikh, Stanislav S, Adams, Carissa, Hodge, Rebecca D, Hevner, Robert F, Bonthron, David T, Braun, Kees P J, Faivre, Laurence, Rivière, Jean-Baptiste, St-Onge, Judith, and Gripp, Karen W

Subjects
GENES, GLYCOGEN synthase kinase, ELECTROPORATION, MOLECULAR genetics, CELL cycle, CELL proliferation
Abstract

Activating mutations in genes encoding phosphatidylinositol 3-kinase (PI3K)-AKT pathway components cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH, OMIM 603387). Here we report that individuals with MPPH lacking upstream PI3K-AKT pathway mutations carry de novo mutations in CCND2 (encoding cyclin D2) that are clustered around a residue that can be phosphorylated by glycogen synthase kinase 3β (GSK-3β). Mutant CCND2 was resistant to proteasomal degradation in vitro compared to wild-type CCND2. The PI3K-AKT pathway modulates GSK-3β activity, and cells from individuals with PIK3CA, PIK3R2 or AKT3 mutations showed similar CCND2 accumulation. CCND2 was expressed at higher levels in brains of mouse embryos expressing activated AKT3. In utero electroporation of mutant CCND2 into embryonic mouse brains produced more proliferating transfected progenitors and a smaller fraction of progenitors exiting the cell cycle compared to cells electroporated with wild-type CCND2. These observations suggest that cyclin D2 stabilization, caused by CCND2 mutation or PI3K-AKT activation, is a unifying mechanism in PI3K-AKT-related megalencephaly syndromes. [ABSTRACT FROM AUTHOR]

Published
2014
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198. Cohen syndrome is associated with major glycosylation defects.

Author

Duplomb, Laurence, Duvet, Sandrine, Picot, Damien, Jego, Gaëtan, El Chehadeh-Djebbar, Salima, Marle, Nathalie, Gigot, Nadège, Aral, Bernard, Carmignac, Virginie, Thevenon, Julien, Lopez, Estelle, Rivière, Jean-Baptiste, Klein, André, Philippe, Christophe, Droin, Nathalie, Blair, Edward, Girodon, François, Donadieu, Jean, Bellanné-Chantelot, Christine, and Delva, Laurent

Published
2014
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199. TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome

Author

Lambacher, Nils J., Bruel, Ange-Line, van Dam, Teunis J. P., Szymańska, Katarzyna, Slaats, Gisela G., Kuhns, Stefanie, McManus, Gavin J., Kennedy, Julie E., Gaff, Karl, Wu, Ka Man, van der Lee, Robin, Burglen, Lydie, Doummar, Diane, Rivière, Jean-Baptiste, Faivre, Laurence, Attié-Bitach, Tania, Saunier, Sophie, Curd, Alistair, Peckham, Michelle, Giles, Rachel H., Johnson, Colin A., Huynen, Martijn A., Thauvin-Robinet, Christel, and Blacque, Oliver E.

Abstract

The transition zone (TZ) ciliary subcompartment is thought to control cilium composition and signalling by facilitating a protein diffusion barrier at the ciliary base. TZ defects cause ciliopathies such as Meckel–Gruber syndrome (MKS), nephronophthisis (NPHP) and Joubert syndrome (JBTS). However, the molecular composition and mechanisms underpinning TZ organization and barrier regulation are poorly understood. To uncover candidate TZ genes, we employed bioinformatics (coexpression and co-evolution) and identified TMEM107 as a TZ protein mutated in oral–facial–digital syndrome and JBTS patients. Mechanistic studies in Caenorhabditis elegans showed that TMEM-107 controls ciliary composition and functions redundantly with NPHP-4 to regulate cilium integrity, TZ docking and assembly of membrane to microtubule Y-link connectors. Furthermore, nematode TMEM-107 occupies an intermediate layer of the TZ-localized MKS module by organizing recruitment of the ciliopathy proteins MKS-1, TMEM-231 (JBTS20) and JBTS-14 (TMEM237). Finally, MKS module membrane proteins are immobile and super-resolution microscopy in worms and mammalian cells reveals periodic localizations within the TZ. This work expands the MKS module of ciliopathy-causing TZ proteins associated with diffusion barrier formation and provides insight into TZ subdomain architecture.

Published
2016
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200. Both Rare and De Novo Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria.

Author

Sajan, Samin A., Fernandez, Liliana, Nieh, Sahar Esmaeeli, Rider, Eric, Bukshpun, Polina, Wakahiro, Mari, Christian, Susan L., Rivière, Jean-Baptiste, Sullivan, Christopher T., Sudi, Jyotsna, Herriges, Michael J., Paciorkowski, Alexander R., Barkovich, A. James, Glessner, Joseph T., Millen, Kathleen J., Hakonarson, Hakon, Dobyns, William B., and Sherr, Elliott H.

Subjects
AGENESIS of corpus callosum, BRAIN abnormalities, DISEASE prevalence, DNA copy number variations, KARYOTYPES
Abstract

Agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and polymicrogyria (PMG) are severe congenital brain malformations with largely undiscovered causes. We conducted a large-scale chromosomal copy number variation (CNV) discovery effort in 255 ACC, 220 CBLH, and 147 PMG patients, and 2,349 controls. Compared to controls, significantly more ACC, but unexpectedly not CBLH or PMG patients, had rare genic CNVs over one megabase (p = 1.48×10−3; odds ratio [OR] = 3.19; 95% confidence interval [CI] = 1.89–5.39). Rare genic CNVs were those that impacted at least one gene in less than 1% of the combined population of patients and controls. Compared to controls, significantly more ACC but not CBLH or PMG patients had rare CNVs impacting over 20 genes (p = 0.01; OR = 2.95; 95% CI = 1.69–5.18). Independent qPCR confirmation showed that 9.4% of ACC patients had de novo CNVs. These, in comparison to inherited CNVs, preferentially overlapped de novo CNVs previously observed in patients with autism spectrum disorders (p = 3.06×10−4; OR = 7.55; 95% CI = 2.40–23.72). Interestingly, numerous reports have shown a reduced corpus callosum area in autistic patients, and diminished social and executive function in many ACC patients. We also confirmed and refined previously known CNVs, including significantly narrowing the 8p23.1-p11.1 duplication present in 2% of our current ACC cohort. We found six novel CNVs, each in a single patient, that are likely deleterious: deletions of 1p31.3-p31.1, 1q31.2-q31.3, 5q23.1, and 15q11.2-q13.1; and duplications of 2q11.2-q13 and 11p14.3-p14.2. One ACC patient with microcephaly had a paternally inherited deletion of 16p13.11 that included NDE1. Exome sequencing identified a recessive maternally inherited nonsense mutation in the non-deleted allele of NDE1, revealing the complexity of ACC genetics. This is the first systematic study of CNVs in congenital brain malformations, and shows a much higher prevalence of large gene-rich CNVs in ACC than in CBLH and PMG. [ABSTRACT FROM AUTHOR]

Published
2013
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