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1. Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital’s perspective

Author

Wells, Constance F., Boursier, Guilaine, Yauy, Kevin, Ruiz-Pallares, Nathalie, Mechin, Déborah, Ruault, Valentin, Tharreau, Mylène, Blanchet, Patricia, Pinson, Lucile, Coubes, Christine, Fila, Marc, Baleine, Julien, Pidoux, Odile, Badr, Maliha, Milesi, Christophe, Cambonie, Gilles, Mesnage, Renaud, Dereure, Maëlle, Ardouin, Olivier, Guignard, Thomas, Geneviève, David, Barat-Houari, Mouna, and Willems, Marjolaine

Published
2022
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2. Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants

Author

Janin, Alexandre, Perouse de Montclos, Thomas, Nguyen, Karine, Consolino, Emilie, Nadeau, Gwenael, Rey, Gaelle, Bouchot, Océane, Blanchet, Patricia, Sabbagh, Quentin, Cazeneuve, Cécile, El-Malti, Rajae, Morel, Elodie, Delinière, Antoine, Chevalier, Philippe, and Millat, Gilles

Published
2022
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3. Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt

Author

Rouxel, Flavien, Yauy, Kevin, Boursier, Guilaine, Gatinois, Vincent, Barat-Houari, Mouna, Sanchez, Elodie, Lacombe, Didier, Arpin, Stéphanie, Giuliano, Fabienne, Haye, Damien, Rio, Marlène, Toutain, Annick, Dieterich, Klaus, Brischoux-Boucher, Elise, Julia, Sophie, Nizon, Mathilde, Afenjar, Alexandra, Keren, Boris, Jacquette, Aurelia, Moutton, Sebastien, Jacquemont, Marie-Line, Duflos, Claire, Capri, Yline, Amiel, Jeanne, Blanchet, Patricia, Lyonnet, Stanislas, Sanlaville, Damien, and Genevieve, David

Published
2022
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4. NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

Author

Schanze, Ina, Bunt, Jens, Lim, Jonathan WC, Schanze, Denny, Dean, Ryan J, Alders, Marielle, Blanchet, Patricia, Attié-Bitach, Tania, Berland, Siren, Boogert, Steven, Boppudi, Sangamitra, Bridges, Caitlin J, Cho, Megan T, Dobyns, William B, Donnai, Dian, Douglas, Jessica, Earl, Dawn L, Edwards, Timothy J, Faivre, Laurence, Fregeau, Brieana, Genevieve, David, Gérard, Marion, Gatinois, Vincent, Holder-Espinasse, Muriel, Huth, Samuel F, Izumi, Kosuke, Kerr, Bronwyn, Lacaze, Elodie, Lakeman, Phillis, Mahida, Sonal, Mirzaa, Ghayda M, Morgan, Sian M, Nowak, Catherine, Peeters, Hilde, Petit, Florence, Pilz, Daniela T, Puechberty, Jacques, Reinstein, Eyal, Rivière, Jean-Baptiste, Santani, Avni B, Schneider, Anouck, Sherr, Elliott H, Smith-Hicks, Constance, Wieland, Ilse, Zackai, Elaine, Zhao, Xiaonan, Gronostajski, Richard M, Zenker, Martin, and Richards, Linda J

Subjects
Biomedical and Clinical Sciences, Mental Health, Pediatric, Intellectual and Developmental Disabilities (IDD), Neurosciences, Rare Diseases, Behavioral and Social Science, Genetics, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Mental health, Neurological, Adolescent, Adult, Animals, Cerebral Cortex, Child, Child, Preschool, Codon, Nonsense, Cohort Studies, Corpus Callosum, Female, Haploinsufficiency, Humans, Intellectual Disability, Male, Megalencephaly, Mice, Mice, Knockout, NFI Transcription Factors, Polymorphism, Single Nucleotide, Young Adult, NFIB, agenesis of the corpus callosum, chromosome 9p22.3, chromosome 9p23, developmental delay, haploinsufficiency, intellectual disability, macrocephaly, megalencephaly, nuclear factor I, Biological Sciences, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

The nuclear factor I (NFI) family of transcription factors play an important role in normal development of multiple organs. Three NFI family members are highly expressed in the brain, and deletions or sequence variants in two of these, NFIA and NFIX, have been associated with intellectual disability (ID) and brain malformations. NFIB, however, has not previously been implicated in human disease. Here, we present a cohort of 18 individuals with mild ID and behavioral issues who are haploinsufficient for NFIB. Ten individuals harbored overlapping microdeletions of the chromosomal 9p23-p22.2 region, ranging in size from 225 kb to 4.3 Mb. Five additional subjects had point sequence variations creating a premature termination codon, and three subjects harbored single-nucleotide variations resulting in an inactive protein as determined using an in vitro reporter assay. All individuals presented with additional variable neurodevelopmental phenotypes, including muscular hypotonia, motor and speech delay, attention deficit disorder, autism spectrum disorder, and behavioral abnormalities. While structural brain anomalies, including dysgenesis of corpus callosum, were variable, individuals most frequently presented with macrocephaly. To determine whether macrocephaly could be a functional consequence of NFIB disruption, we analyzed a cortex-specific Nfib conditional knockout mouse model, which is postnatally viable. Utilizing magnetic resonance imaging and histology, we demonstrate that Nfib conditional knockout mice have enlargement of the cerebral cortex but preservation of overall brain structure and interhemispheric connectivity. Based on our findings, we propose that haploinsufficiency of NFIB causes ID with macrocephaly.

Published
2018

5. The social and emotional foundations of learning

Author

Gotlieb, Rebecca J. M., primary, Hickey-Moody, Anna, additional, Guroglu, Berna, additional, Burnard, Pamela, additional, Horn, Christine, additional, Willcox, Marissa, additional, Saadatmand, Mohsen, additional, Linzarini, Adriano, additional, Vandenbroucke, Annelinde, additional, Albanese, Dale L., additional, Beyley, Annouchka, additional, Blaise, Mindy, additional, Blanchet, Patricia-Anne, additional, Campos, Anna Lucia, additional, Cavioni, Valeria, additional, Cefai, Carmel, additional, Collie, Rebecca J., additional, Dumontheil, Iroise, additional, Emery, Hilary F., additional, Fuligni, Andrew, additional, Glaveanu, Vlad, additional, Gibson, Jenny, additional, Glozah, Franklin N., additional, Kuo, Hsu-Chan, additional, Lagi, Rosiana, additional, Lammes, Sybille, additional, Macfarlane, Angus Hikairo, additional, Martinsone, Baiba, additional, Mclellan, Ros, additional, Pekrun, Reinhard, additional, Poulou, Maria, additional, Rey, Jo, additional, Rieffe, Carolien, additional, Rodriguez, Vanessa, additional, Rojas, Natalia, additional, Rossenbaum, Gail, additional, Sinha, Pallawi, additional, Wu, Jing-Jyi, additional, and Zhou, Jiaxian, additional

Published
2022
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6. De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

Author

Mirzaa, Ghayda M., Chong, Jessica X., Piton, Amélie, Popp, Bernt, Foss, Kimberly, Guo, Hui, Harripaul, Ricardo, Xia, Kun, Scheck, Joshua, Aldinger, Kimberly A., Sajan, Samin A., Tang, Sha, Bonneau, Dominique, Beck, Anita, White, Janson, Mahida, Sonal, Harris, Jacqueline, Smith-Hicks, Constance, Hoyer, Juliane, Zweier, Christiane, Reis, André, Thiel, Christian T., Jamra, Rami Abou, Zeid, Natasha, Yang, Amy, Farach, Laura S., Walsh, Laurence, Payne, Katelyn, Rohena, Luis, Velinov, Milen, Ziegler, Alban, Schaefer, Elise, Gatinois, Vincent, Geneviève, David, Simon, Marleen E.H., Kohler, Jennefer, Rotenberg, Joshua, Wheeler, Patricia, Larson, Austin, Ernst, Michelle E., Akman, Cigdem I., Westman, Rachel, Blanchet, Patricia, Schillaci, Lori-Anne, Vincent-Delorme, Catherine, Gripp, Karen W., Mattioli, Francesca, Guyader, Gwenaël Le, Gerard, Bénédicte, Mathieu-Dramard, Michèle, Morin, Gilles, Sasanfar, Roksana, Ayub, Muhammad, Vasli, Nasim, Yang, Sandra, Person, Rick, Monaghan, Kristin G., Nickerson, Deborah A., van Binsbergen, Ellen, Enns, Gregory M., Dries, Annika M., Rowe, Leah J., Tsai, Anne C.H., Svihovec, Shayna, Friedman, Jennifer, Agha, Zehra, Qamar, Raheel, Rodan, Lance H., Martinez-Agosto, Julian, Ockeloen, Charlotte W., Vincent, Marie, Sunderland, William James, Bernstein, Jonathan A., Eichler, Evan E., Vincent, John B., and Bamshad, Michael J.

Published
2020
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8. Culture, éducation, écologie : une approche contemporaine de l'enseignement

Author

Bernier, Alexandra, Université de Sherbrooke. Faculté d'éducation, Pelletier, Maude, artiste, Duval, Guylaine, artiste, Champoux, Mélanie, Homier, Marianne, Blanchet, Patricia-Anne, Point, Christophe, L'Heureux, Kassandra, Gosselin, Louis, Meilleur, Barbara, Edward, Kara, Bernier, Alexandra, Université de Sherbrooke. Faculté d'éducation, Pelletier, Maude, artiste, Duval, Guylaine, artiste, Champoux, Mélanie, Homier, Marianne, Blanchet, Patricia-Anne, Point, Christophe, L'Heureux, Kassandra, Gosselin, Louis, Meilleur, Barbara, and Edward, Kara

Abstract

Ressources éducatives libres, Open educational resources, Manuel d’autoformation à une approche culturelle et écologique de l’enseignement Culture Éducation Écologie : Une approche contemporaine de l’enseignement est une ressource d’autoformation qui propose des fondements, des stratégies pédagogiques et des situations d’apprentissage afin de mettre en œuvre une approche culturelle de l’enseignement qui intègre la sphère des rapports écologiques au monde, et ce, de manière transversale à l’ensemble du programme de formation de l’école québécoise. Ce manuel est également disponible en format HTML au https://pressbooks.etsmtl.ca/aculture/. De plus, les vidéos illustrant les propos de ce livre sont rassemblées dans un canal YouTube disponible au https://www.youtube.com/channel/UCXSszaW73y9XnA4j7RmaTdQ, Pourquoi cet ouvrage? / Mélanie Champoux -- Ode aux champignons / Guylaine Duval -- Fondements pour une approche culturelle de l'enseignement conçue au prisme des rapports écologiques au monde / Mélanie Champoux -- Exploration spiralaire de mon identité écologique / Patricia-Anne Blanchet et Kara Edward -- La multiperspectivité pour enseigner l'histoire et la géographie selon une approche culturelle et écologique / Louis Gosselin -- Contextualiser les sciences par le récit de vie et la pédagogie du lieu / Kassandra L'Heureux -- Imaginer les futurs possibles : saisir les occasions de faire des mathématiques dans et pour le monde / Marianne Homier -- Choisir un album jeunesse pour aborder les rapports écologiques au monde avec les élèves / Christophe Point -- L'art en chemin / Barbara Meilleur -- Apprécier des œuvres d'art pour enrichir notre rapport écologique au monde / Alexandra Bernier.

Published
2024

9. Teaching Life Narratives in the Classroom: Strategies Based on Indigenous Traditions

Author

Lavoie, Constance and Blanchet, Patricia-Anne

Abstract

The life narrative is an oral genre grounded in Indigenous tradition and teaching practice. In Canadian Indigenous communities, the expertise and content transmitted by life narratives are a part of their oral heritage. Drawing from their personal and professional experiences in Indigenous school environments, as well as the results from exploratory studies, the authors have developed an educational model for teaching life narratives in the classroom. This paper begins with an overview on the pedagogical use of life narratives for historical reconciliation, knowledge and expertise preservation, and ethical education. This enables the authors to propose a definition supported by the existing scientific literature. An analysis of the data collected from Innu, Algonquin, and Mohawk communities revealed the main strategies commonly used by their teachers and Elders. A pedagogical model dividing these strategies into planning, integration, and implementation phases for using life narratives is finally presented.

Published
2018
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10. Report on three additional patients and genotype–phenotype correlation in SLC25A22-related disorders group

Author

Lemattre, Camille, Imbert-Bouteille, Marion, Gatinois, Vincent, Benit, Paule, Sanchez, Elodie, Guignard, Thomas, Tran Mau-Them, Frédéric, Haquet, Emmanuelle, Rivier, François, Carme, Emilie, Roubertie, Agathe, Boland, Anne, Lechner, Doris, Meyer, Vincent, Thevenon, Julien, Duffourd, Yannis, Rivière, Jean-Baptiste, Deleuze, Jean-François, Wells, Constance, Molinari, Florence, Rustin, Pierre, Blanchet, Patricia, and Geneviève, David

Published
2019
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11. B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation

Author

Yauy, Kevin, Tran Mau-Them, Frederic, Willems, Marjolaine, Coubes, Christine, Blanchet, Patricia, Herlin, Christian, Taleb Arrada, Ikram, Sanchez, Elodie, Faure, Jean-Michel, Le Gac, Marie-Pascale, Prodhomme, Olivier, Boland, Anne, Meyer, Vincent, Rivière, Jean-Baptiste, Duffourd, Yannis, Deleuze, Jean-François, Guignard, Thomas, Captier, Guillaume, Barat-Houari, Mouna, and Genevieve, David

Published
2018
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13. Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia

Author

Michot, Caroline, Le Goff, Carine, Blair, Edward, Blanchet, Patricia, Capri, Yline, Gilbert-Dussardier, Brigitte, Goldenberg, Alice, Henderson, Alex, Isidor, Bertrand, Kayserili, Hulya, Kinning, Esther, Le Merrer, Martine, Lyonnet, Stanislas, Odent, Sylvie, Simsek-Kiper, Pelin Ozlem, Quelin, Chloé, Savarirayan, Ravi, Simon, Marleen, Splitt, Miranda, Verhagen, Judith M.A., Verloes, Alain, Munnich, Arnold, Baujat, Geneviève, and Cormier-Daire, Valérie

Published
2018
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14. Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

Author

Vincent, Marie, Geneviève, David, Ostertag, Agnès, Marlin, Sandrine, Lacombe, Didier, Martin-Coignard, Dominique, Coubes, Christine, David, Albert, Lyonnet, Stanislas, Vilain, Catheline, Dieux-Coeslier, Anne, Manouvrier, Sylvie, Isidor, Bertrand, Jacquemont, Marie-Line, Julia, Sophie, Layet, Valérie, Naudion, Sophie, Odent, Sylvie, Pasquier, Laurent, Pelras, Sybille, Philip, Nicole, Pierquin, Geneviève, Prieur, Fabienne, Aboussair, Nisrine, Attie-Bitach, Tania, Baujat, Geneviève, Blanchet, Patricia, Blanchet, Catherine, Dollfus, Hélène, Doray, Bérénice, Schaefer, Elise, Edery, Patrick, Giuliano, Fabienne, Goldenberg, Alice, Goizet, Cyril, Guichet, Agnès, Herlin, Christian, Lambert, Laetitia, Leheup, Bruno, Martinovic, Jelena, Mercier, Sandra, Mignot, Cyril, Moutard, Marie-Laure, Perez, Marie-José, Pinson, Lucile, Puechberty, Jacques, Willems, Marjolaine, Randrianaivo, Hanitra, Szaskon, Kateline, Toutain, Annick, Verloes, Alain, Vigneron, Jacqueline, Sanchez, Elodie, Sarda, Pierre, Laplanche, Jean-Louis, and Collet, Corinne

Published
2016
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15. Ashtam Ntotacinan/Come Listen to Us: Theatricalization of Life Stories for the Holistic Wellness of Indigenous Women Students.

Author

Blanchet, Patricia-Anne

Subjects
*INDIGENOUS women, *INDIGENOUS youth, *TRADITIONAL knowledge, *PUBLIC art spaces, *THEATER education
Abstract

In Quebec, Indigenous cultural resurgence is expressed through all areas of creation, including theatre, which allows the expression of concerns related to identity reaffirmation and cultural reappropriation. In this movement, Indigenous women are particularly present in public space through art. As a path of resistance and resilience, artistic culture is an important factor of wellness for First Peoples. Anchored in a decolonial epistemology, this theatre-based research involves the implementation of a collective creation approach with Indigenous female college students. It questions the benefits of the theatricalization of life stories on learning related to the dimensions of holistic wellness. Faced with systemic obstacles resulting from colonization, Indigenous students follow atypical schooling trajectories, hence the importance of supporting them with culturally safe approaches based on traditional knowledge. Combining the fields of Indigenous education and theatre education, it is hoped that through this project, the narrative sovereignty of Indigenous women is strengthened and recommendations for the realization of culturally safe artistic educational projects with Indigenous youth and adults are provided. [ABSTRACT FROM AUTHOR]

Published
2024
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16. CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays

Author

Legendre, Marine, Rodriguez - Ballesteros, Montserrat, Rossi, Massimiliano, Abadie, Véronique, Amiel, Jeanne, Revencu, Nicole, Blanchet, Patricia, Brioude, Frédéric, Delrue, Marie-Ange, Doubaj, Yassamine, Sefiani, Abdelaziz, Francannet, Christine, Holder-Espinasse, Muriel, Jouk, Pierre-Simon, Julia, Sophie, Melki, Judith, Mur, Sébastien, Naudion, Sophie, Fabre-Teste, Jennifer, Busa, Tiffany, Stamm, Stephen, Lyonnet, Stanislas, Attie-Bitach, Tania, Kitzis, Alain, Gilbert-Dussardier, Brigitte, and Bilan, Frédéric

Published
2018
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17. 15q11.2 microdeletion (BP1–BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patients

Author

Vanlerberghe, Clémence, Petit, Florence, Malan, Valérie, Vincent-Delorme, Catherine, Bouquillon, Sonia, Boute, Odile, Holder-Espinasse, Muriel, Delobel, Bruno, Duban, Bénédicte, Vallee, Louis, Cuisset, Jean-Marie, Lemaitre, Marie-Pierre, Vantyghem, Marie-Christine, Pigeyre, Marie, Lanco-Dosen, Sandrine, Plessis, Ghislaine, Gerard, Marion, Decamp, Matthieu, Mathieu, Michèle, Morin, Gilles, Jedraszak, Guillaume, Bilan, Frédéric, Gilbert-Dussardier, Brigitte, Fauvert, Delphine, Roume, Joëlle, Cormier-Daire, Valérie, Caumes, Roseline, Puechberty, Jacques, Genevieve, David, Sarda, Pierre, Pinson, Lucie, Blanchet, Patricia, Lemeur, Nathalie, Sheth, Frenny, Manouvrier-Hanu, Sylvie, and Andrieux, Joris

Published
2015
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18. Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool

Author

Tran Mau-Them, Frédéric, Delanne, Julian, Denommé-Pichon, Anne-Sophie, Safraou, Hana, Bruel, Ange-Line, Vitobello, Antonio, Garde, Aurore, Nambot, Sophie, Bourgon, Nicolas, Racine, Caroline, Sorlin, Arthur, Moutton, Sébastien, Marle, Nathalie, Rousseau, Thierry, Sagot, Paul, Simon, Emmanuel, Vincent-Delorme, Catherine, Boute, Odile, Colson, Cindy, Petit, Florence, Legendre, Marine, Naudion, Sophie, Rooryck, Caroline, Prouteau, Clément, Colin, Estelle, Guichet, Agnès, Ziegler, Alban, Bonneau, Dominique, Morel, Godelieve, Fradin, Mélanie, Lavillaureix, Alinoé, Quelin, Chloé, Pasquier, Laurent, Odent, Sylvie, Vera, Gabriella, Goldenberg, Alice, Guerrot, Anne-Marie, Brehin, Anne-Claire, Putoux, Audrey, Attia, Jocelyne, Abel, Carine, Blanchet, Patricia, Wells, Constance F., Deiller, Caroline, Nizon, Mathilde, Mercier, Sandra, Vincent, Marie, Isidor, Bertrand, Amiel, Jeanne, Dard, Rodolphe, Godin, Manon, Gruchy, Nicolas, Jeanne, Médéric, Schaeffer, Elise, Maillard, Pierre-Yves, Payet, Frédérique, Jacquemont, Marie-Line, Francannet, Christine, Sigaudy, Sabine, Bergot, Marine, Tisserant, Emilie, Ascencio, Marie-Laure, Binquet, Christine, Duffourd, Yannis, Philippe, Christophe, Faivre, Laurence, Thauvin-Robinet, Christel, Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Agro Dijon, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), Unité fonctionnelle d' Innovation en Diagnostic Génomique des Maladies Rares (CHU Dijon) (UF6254), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), FHU TRANSLAD (CHU de Dijon), Laboratoire de Génétique Chromosomique et Moléculaire [CHU Dijon], Service de Gynécologie Obstétrique, Médecine Foetale et Stérilité Conjugale - Chirurgie Gynécologie et Oncologique [CHU de Dijon], Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Nord, Centre Hospitalier Universitaire de Lille (CHU de Lille), Service de génétique médicale, Université de Bordeaux (UB)-CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Département de Biochimie et Génétique [Angers], Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Centre de référence Maladies Rares CLAD-Ouest [Rennes], Service de génétique [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Service de Génétique Clinique, Hôpital Femme Mère Enfant, Centre Hospitalier Universitaire de Lyon, Service de Gynécologie et Obstétrique [Hôpital de la Croix-Rousse - HCL], Hôpital de la Croix-Rousse [CHU - HCL], Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Service de Génétique et Centre de Diagnostic Anténatal, Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Equipe Maladies Génétiques de L'Enfant et de L'Adulte, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée [Montpellier], Centre de Référence Anomalies du Développement et Syndromes Malformatifs [Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Arnaud de Villeneuve-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Arnaud de Villeneuve-Centre de Référence Anomalies du Développement et Syndromes Malformatifs [Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Arnaud de Villeneuve-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Arnaud de Villeneuve, Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Institut du Thorax [Nantes], Embryology and genetics of human malformation, Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Service de Génétique Médicale et Clinique, Hôpital Necker-Enfants Malades, Unité Fonctionnelle de Génétique Médicale, Cytogénétique, Génétique Médicale et Biologie de La Reproduction, Centre Hospitalier Intercommunal Poissy-Saint-Germain-en-Laye, Biologie, génétique et thérapies ostéoarticulaires et respiratoires (BIOTARGEN), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU), Service de génétique [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, UMR 1253 IBrain Imagerie & Cerveau Equipe 2 : 'Neurogénomique & Physiopathologie neuronale' (NPN), Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), CHU Strasbourg-Hôpital de Hautepierre [Strasbourg], Service de Génétique Médicale, Pôle Femme, Mère, Enfants CHU de La Réunion-GH Sud Réunion-Saint-Pierre, Pôle Femme, Mère, Enfants, CHU de La Réunion-GH Sud Réunion-Saint-Pierre-CHU de La Réunion-GH Sud Réunion-Saint-Pierre, Service de Génétique Médicale [CHU Clermont-Ferrand], CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, Unité de Génétique Clinique Prénatale, Département de Génétique Médicale, Hôpital de la Timone [CHU - APHM] (TIMONE)- Hôpital de la Timone [CHU - APHM] (TIMONE), Centre d'Investigation Clinique 1432 (Dijon) - Epidemiologie Clinique/Essais Cliniques (CIC-EC), Université de Bourgogne (UB)-Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon)-Institut National de la Santé et de la Recherche Médicale (INSERM), and This work was supported by grants from Dijon University Hospital, the ISITE-BFC (PIA ANR), the European Union through the FEDER programs, and the AnDDI-Rares network for ES performed in this study.

Subjects
prenatal, [SDV.BA.MVSA]Life Sciences [q-bio]/Animal biology/Veterinary medicine and animal Health, chromosomal microarray, exome sequencing (ES), diagnostic yield, Genetics, Molecular Medicine, fetal, Genetics (clinical)
Abstract

Introduction: Prenatal ultrasound (US) anomalies are detected in around 5%–10% of pregnancies. In prenatal diagnosis, exome sequencing (ES) diagnostic yield ranges from 6% to 80% depending on the inclusion criteria. We describe the first French national multicenter pilot study aiming to implement ES in prenatal diagnosis following the detection of anomalies on US.Patients and methods: We prospectively performed prenatal trio-ES in 150 fetuses with at least two US anomalies or one US anomaly known to be frequently linked to a genetic disorder. Trio-ES was only performed if the results could influence pregnancy management. Chromosomal microarray (CMA) was performed before or in parallel.Results: A causal diagnosis was identified in 52/150 fetuses (34%) with a median time to diagnosis of 28 days, which rose to 56/150 fetuses (37%) after additional investigation. Sporadic occurrences were identified in 34/56 (60%) fetuses and unfavorable vital and/or neurodevelopmental prognosis was made in 13/56 (24%) fetuses. The overall diagnostic yield was 41% (37/89) with first-line trio-ES versus 31% (19/61) after normal CMA. Trio-ES and CMA were systematically concordant for identification of pathogenic CNV.Conclusion: Trio-ES provided a substantial prenatal diagnostic yield, similar to postnatal diagnosis with a median turnaround of approximately 1 month, supporting its routine implementation during the detection of prenatal US anomalies.

Published
2023
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19. Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect

Author

Boutaud, Lucile, primary, Ruzzenente, Benedetta, additional, Tessier, Aude, additional, Anselem, Olivia, additional, Pannier, Emmanuelle, additional, Grotto, Sarah, additional, Talhi, Naïma, additional, Amram, Daniel, additional, Willems, Marjolaine, additional, Wells, Constance, additional, Blanchet, Patricia, additional, Musizzano, Yuri, additional, Jauny, Clémence, additional, Nitschke, Patrick, additional, Bole-Feysot, Christine, additional, Bessières, Bettina, additional, Salhi, Houria, additional, Achaiaa, Amale, additional, Metodiev, Metodi D, additional, Razavi, Ferechte, additional, Rötig, Agnès, additional, Loeuilllet, Laurence, additional, and Attié-Bitach, Tania, additional

Published
2022
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21. Phenotypic and Cytogenetic Variety of Pure Partial Trisomy

Author

Noruzinia Mehrdad, Lefort Genevieve, Chaze Anne Marie, Puechberty Jacques, Pellestor Franck, Blanchet Patricia, Cacheux Valerie, and Sarda Pierre

Subjects
Chromosome 16, pure partial trisomy, interstitial duplication, Medicine (General), R5-920
Abstract

Duplications of chromosome 16p are often the products of unbalanced maternal reciprocal translocations and consequently the phenotype of patients is not typical of pure partial trisomy 16p. R-banding and fluorescence in situ hybridization (FISH) in our patients were in favour of de novo pure partial trisomy of 16p. Furthure clinical and paraclinical analysis of our three cases in addition to a review of literature and analysis of published clinical and cytogenetic data on five cases of pure partial duplications of chromosome 16p reported until now lead to the delineation of three groups of duplications. Patients with short proximal 16p11~p12 euchromatic duplication considered as "silent" duplication and no clinical anomaly are included in the first group. The second group with a larger 16p11-p12~p13 duplication is caracterised by a particular phenotype including severe mental retardation, dysmorphism, variable malformations and recurrent infections. The third group has terminal 16p13-pter duplication and is not well defined to date. Based on our cases and reported cases of pure partial trisomy of 16p in the literature we propose diagnostic measures in case of an elongated 16p chromosome encountered in prenatal chromosome analysis.

Published
2009

22. Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus callosum defect.

Author

Boutaud, Lucile, Ruzzenente, Benedetta, Tessier, Aude, Anselem, Olivia, Pannier, Emmanuelle, Grotto, Sarah, Talhi, Naïma, Amram, Daniel, Willems, Marjolaine, Wells, Constance, Blanchet, Patricia, Musizzano, Yuri, Jauny, Clémence, Nitschke, Patrick, Bole-Feysot, Christine, Bessières, Bettina, Salhi, Houria, Achaiaa, Amale, Metodiev, Metodi D, and Razavi, Ferechte

Subjects
CORPUS callosum, AGENESIS of corpus callosum, NUCLEOTIDE sequencing, MITOCHONDRIAL physiology, MITOCHONDRIA, GENETIC counseling
Abstract

Corpus callosum defects are frequent congenital cerebral disorders caused by mutations in more than 300 genes. These include genes implicated in corpus callosum development or function, as well as genes essential for mitochondrial physiology. However, in utero corpus callosum anomalies rarely raise a suspicion of mitochondrial disease and are characterized by a very large clinical heterogeneity. Here, we report a detailed pathological and neuro-histopathological investigation of 9 fetuses from 4 unrelated families with prenatal onset of corpus callosum anomalies, sometimes associated with other cerebral or extra-cerebral defects. Next generation sequencing allowed the identification of novel pathogenic variants in 3 different nuclear genes previously reported in mitochondrial diseases: TIMMDC1, encoding a complex I assembly factor never involved before in corpus callosum defect; MRPS22, a protein of the small mitoribosomal subunit, and EARS2, the mitochondrial tRNA-glutamyl synthetase. The present report describes the antenatal histopathological findings in mitochondrial diseases and expands the genetic spectrum of antenatal corpus callosum anomalies establishing OXPHOS function as an important factor for corpus callosum biogenesis. We propose that, when observed, antenatal corpus callosum anomalies should raise suspicion of mitochondrial disease and prenatal genetic counseling should be considered. [ABSTRACT FROM AUTHOR]

Published
2023
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23. Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3

Author

Schirwani, Schaida, Albaba,Shadi, Carere, Deanna Alexis, Guillen Sacoto, Maria J., Milan Zamora, Francisca, Si Yue, Rabin, Rachel, Pappas, John, Renaud, Deborah L., Hauser, Natalie, Reid, Evan, Blanchet, Patricia, Foulds, Nichola, Dixit, Abhijit, Fisher, Richard, Armstrong, Ruth, Isidor, Bertrand, Cogne, Benjamin, Vergano, Samantha Schrier, Demirdas, Serwet, Dykzeul, Natalie, Cohen, Julie S., Grand, Katheryn, Morel, Dayna, Slavotinek, Anne, Albassam, Hessa F., Naik, Swati, Dean, John, Ragge, Nicola, Cinzia, Costa, Tedesco, Maria Giovanna, Harrison, Rachel E., Bouman, Arjan, Palen, Emily, Challman, Thomas D., Willemsen, Marjolein H., Vogt, Julie, Cunniff, Christopher, Bergstrom, Katherine, Walia, Jagdeep S., Bruel, Ange-Line, Kini, Usha, Alkuraya, Fowzan S., Slegesky, Valerie, Meeks, Naomi, Girotto, Paula, Johnson, Diana, DDD study, Newbury-Ecob, Ruth, Ockeloen, Charlotte W., Prontera, Paolo, Lynch, Sally Ann, Li Dong, Graham, John M., Jr., and Balasubramanian Meena

Abstract

Purpose. The study aimed at widening the clinical and genetic spectrum of ASXL3-related syndrome, a neurodevelopmental disorder, caused by truncating variants in the ASXL3 gene. Methods. In this international collaborative study, we have undertaken a detailed clinical and molecular analysis of 45 previously unpublished individuals with ASXL3-related syndrome, as well as a review of all previously published individuals. We have reviewed the rather limited functional characterisation of pathogenic variants in ASXL3 and discuss current understanding of the consequences of the different ASXL3 variants. Results. In this comprehensive analysis of ASXL3-related syndrome, we define its natural history and clinical evolution occurring with age. We report familial ASXL3 pathogenic variants, characterise the phenotype in mildly affected individuals and discuss non-penetrance. We also discuss the role of missense variants in ASXL3. We delineate a variable but consistent phenotype. The most characteristic features are neurodevelopmental delay with consistently limited speech, significant neuro-behavioural issues, hypotonia and feeding difficulties. Distinctive features include down-slanting palpebral fissures, hypertelorism, tubular nose with a prominent nasal bridge and low-hanging columella. Conclusion. The presented data will inform clinical management of individuals with ASXL3-related syndrome and improve interpretation of new ASXL3 sequence variants.

Published
2021

24. Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

Author

Brioude, Frederic, Netchine, Irène, Praz, Francoise, Le Jule, Marilyne, Calmel, Claire, Lacombe, Didier, Edery, Patrick, Catala, Martin, Odent, Sylvie, Isidor, Bertrand, Lyonnet, Stanislas, Sigaudy, Sabine, Leheup, Bruno, Audebert-Bellanger, Séverine, Burglen, Lydie, Giuliano, Fabienne, Alessandri, Jean-Luc, Cormier-Daire, Valérie, Laffargue, Fanny, Blesson, Sophie, Coupier, Isabelle, Lespinasse, James, Blanchet, Patricia, Boute, Odile, Baumann, Clarisse, Polak, Michel, Doray, Berenice, Verloes, Alain, Viot, Géraldine, Le Bouc, Yves, and Rossignol, Sylvie

Published
2015
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25. Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt

Author

Rouxel, Flavien, primary, Yauy, Kevin, additional, Boursier, Guilaine, additional, Gatinois, Vincent, additional, Barat-Houari, Mouna, additional, Sanchez, Elodie, additional, Lacombe, Didier, additional, Arpin, Stéphanie, additional, Giuliano, Fabienne, additional, Haye, Damien, additional, Rio, Marlène, additional, Toutain, Annick, additional, Dieterich, Klaus, additional, Brischoux-Boucher, Elise, additional, Julia, Sophie, additional, Nizon, Mathilde, additional, Afenjar, Alexandra, additional, Keren, Boris, additional, Jacquette, Aurelia, additional, Moutton, Sebastien, additional, Jacquemont, Marie-Line, additional, Duflos, Claire, additional, Capri, Yline, additional, Amiel, Jeanne, additional, Blanchet, Patricia, additional, Lyonnet, Stanislas, additional, Sanlaville, Damien, additional, and Genevieve, David, additional

Published
2021
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26. Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature

Author

COTTEREAU, EDOUARD, MORTEMOUSQUE, ISABELLE, MOIZARD, MARIE-PIERRE, BÜRGLEN, LYDIE, LACOMBE, DIDIER, GILBERT-DUSSARDIER, BRIGITTE, SIGAUDY, SABINE, BOUTE, ODILE, DAVID, ALBERT, FAIVRE, LAURENCE, AMIEL, JEANNE, ROBERTSON, ROBERT, RAMOS, FABIANA VIANA, BIETH, ERIC, ODENT, SYLVIE, DEMEER, BÉNÉDICTE, MATHIEU, MICHÉLE, GAILLARD, DOMINIQUE, VAN MALDERGEM, LIONEL, BAUJAT, GENEVIÉVE, MAYSTADT, ISABELLE, HÉRON, DELPHINE, VERLOES, ALAIN, PHILIP, NICOLE, CORMIER-DAIRE, VALÉRIE, FROUTÉ, MARIE-FRANÇOISE, PINSON, LUCILE, BLANCHET, PATRICIA, SARDA, PIERRE, WILLEMS, MARJOLAINE, JACQUINET, ADELINE, RATBI, ILHAM, VAN DEN ENDE, JENNEKE, LIS, MARYLIN LACKMY-PORT, GOLDENBERG, ALICE, BONNEAU, DOMINIQUE, ROSSIGNOL, SYLVIE, and TOUTAIN, ANNICK

Published
2013
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27. Non-USH2A Mutations in USH2 Patients†

Author

Besnard, Thomas, Vaché, Christel, Baux, David, Larrieu, Lise, Abadie, Caroline, Blanchet, Catherine, Odent, Sylvie, Blanchet, Patricia, Calvas, Patrick, Hamel, Christian, Dollfus, Hélène, Lina-Granade, Geneviève, Lespinasse, James, David, Albert, Isidor, Bertrand, Morin, Gilles, Malcolm, Sue, Tuffery-Giraud, Sylvie, Claustres, Mireille, and Roux, Anne-Françoise

Published
2012
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28. Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies

Author

Devisme, Louise, Bouchet, Céline, Gonzalès, Marie, Alanio, Elisabeth, Bazin, Anne, Bessières, Bettina, Bigi, Nicole, Blanchet, Patricia, Bonneau, Dominique, Bonnières, Maryse, Bucourt, Martine, Carles, Dominique, Clarisse, Bénedicte, Delahaye, Sophie, Fallet-Bianco, Catherine, Figarella-Branger, Dominique, Gaillard, Dominique, Gasser, Bernard, Delezoide, Anne-Lise, Guimiot, Fabien, Joubert, Madeleine, Laurent, Nicole, Laquerrière, Annie, Liprandi, Agnès, Loget, Philippe, Marcorelles, Pascale, Martinovic, Jelena, Menez, Francoise, Patrier, Sophie, Pelluard, Fanny, Perez, Marie-José, Rouleau, Caroline, Triau, Stéphane, Attié-Bitach, Tania, Vuillaumier-Barrot, Sandrine, Seta, Nathalie, and Encha-Razavi, Férechté

Published
2012
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29. Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials

Author

Garde, Aurore, primary, Guibaud, Laurent, additional, Goldenberg, Alice, additional, Petit, Florence, additional, Dard, Rodolphe, additional, Roume, Joelle, additional, Mazereeuw‐Hautier, Juliette, additional, Chassaing, Nicolas, additional, Lacombe, Didier, additional, Morice‐Picard, Fanny, additional, Toutain, Annick, additional, Arpin, Stéphanie, additional, Boccara, Olivia, additional, Touraine, Renaud, additional, Blanchet, Patricia, additional, Coubes, Christine, additional, Willems, Marjolaine, additional, Pinson, Lucile, additional, Van Kien, Philippe Khau, additional, Chiaverini, Christine, additional, Giuliano, Fabienne, additional, Alessandri, Jean‐Luc, additional, Mathieu‐Dramard, Michèle, additional, Morin, Gilles, additional, Bursztejn, Anne‐Claire, additional, Mignot, Cyril, additional, Doummar, Diane, additional, Di Rocco, Frederico, additional, Cornaton, Jenny, additional, Nicolas, Claire, additional, Gautier, Elodie, additional, Luu, Maxime, additional, Bardou, Marc, additional, Sorlin, Arthur, additional, Philippe, Christophe, additional, Edery, Patrick, additional, Rossi, Massimiliano, additional, Carmignac, Virginie, additional, Thauvin‐Robinet, Christel, additional, Vabres, Pierre, additional, and Faivre, Laurence, additional

Published
2021
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31. RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects

Author

Jeanpierre, Cécile, Macé, Guillaume, Parisot, Mélanie, Morinière, Vincent, Pawtowsky, Audrey, Benabou, Marion, Martinovic, Jelena, Amiel, Jeanne, Attié-Bitach, Tania, Delezoide, Anne-Lise, Loget, Philippe, Blanchet, Patricia, Gaillard, Dominique, Gonzales, Marie, Carpentier, Wassila, Nitschke, Patrick, Tores, Frédéric, Heidet, Laurence, Antignac, Corinne, and Salomon, Rémi

Published
2011
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33. Clinical and Molecular Spectrum of Nonsyndromic Early‐Onset Osteoarthritis

Author

Ruault, Valentin, primary, Yauy, Kevin, additional, Fabre, Aurélie, additional, Fradin, Mélanie, additional, Van-Gils, Julien, additional, Angelini, Chloé, additional, Baujat, Geneviève, additional, Blanchet, Patricia, additional, Cuinat, Silvestre, additional, Isidor, Bertrand, additional, Jorgensen, Christian, additional, Lacombe, Didier, additional, Moutton, Sébastien, additional, Odent, Sylvie, additional, Sanchez, Elodie, additional, Sigaudy, Sabine, additional, Touitou, Isabelle, additional, Willems, Marjolaine, additional, Apparailly, Florence, additional, Geneviève, David, additional, and Barat-Houari, Mouna, additional

Published
2020
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34. Type I Hyperprolinemia: Genotype/Phenotype Correlations

Author

Guilmatre, Audrey, Legallic, Solenn, Steel, Gary, Willis, Alecia, Rosa, Gabriella Di, Goldenberg, Alice, Drouin-Garraud, Valérie, Guet, Agnès, Mignot, Cyril, Portes, Vincent Des, Valayannopoulos, Vassili, Van Maldergem, Lionel, Hoffman, Jodi D., Izzi, Claudia, Espil-Taris, Caroline, Orcesi, Simona, Bonafé, Luisa, Le Galloudec, Eric, Maurey, Hélène, Ioos, Christine, Afenjar, Alexandra, Blanchet, Patricia, Echenne, Bernard, Roubertie, Agathe, Frebourg, Thierry, Valle, David, and Campion, Dominique

Published
2010
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40. La discussion lexicale : une approche dialogique pour l’analyse des relations sémantiques

Author

Pellerin, Martine, Lavoie, Constance, Blanchet, Patricia-Anne, Pellerin, Martine, Lavoie, Constance, and Blanchet, Patricia-Anne

Abstract

L’apprentissage des relations sémantiques est une tâche complexe qui nécessite de tisser des liens de sens en partant de mots connus et des représentations initiales des apprenants. Or, peu d’enseignement systématique du lexique et des relations sémantiques serait réalisé en classe et le potentiel des approches discursives pour cet apprentissage serait peu exploité. Devant le manque de ressources didactiques et en nous inspirant d’avancées réalisées dans le champ de la philosophie pour enfants, nous avons développé la démarche de la communauté de recherche lexicale (CRL). Prenant appui sur les approches dialogiques et la théorie socioculturelle des interactions, cette démarche didactique a émergé d’un projet de recherche-action mené par deux chercheuses canadiennes auprès d’élèves et d’enseignantes d’une école primaire située en contexte plurilingue au Québec. Le présent article explore de façon plus approfondie la première étape1 de la démarche, laquelle s’opérationnalise par une discussion lexicale sur le sens d’un mot et l’écoute active des mots. L’apprentissage s’y réalise dans l’action, à travers la prise de parole, l’écoute active et la prise de notes. Faisant écho aux recherches dans le domaine, l’interaction suscitée par la discussion lexicale, guidée par les questions de l’enseignante, favorise la verbalisation de la pensée et l’expression des représentations internes des apprenants ainsi que le déploiement d’une étendue lexicale propice à l’amorce d’un travail d’analyse des relations sémantiques. La discussion lexicale constitue donc une situation d’apprentissage authentique permettant d’énoncer, de saisir et de trouver des mots connus qui entretiennent des liens de sens avec un mot cible. Ces résultats confirment l’importance des approches dialogiques pour soutenir l’enseignement du lexique à l’école primaire.

Published
2020

43. Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations

Author

Gatinois, Vincent, primary, Bigi, Nicole, additional, Mousty, Eve, additional, Chiesa, Jean, additional, Musizzano, Yuri, additional, Schneider, Anouck, additional, Lefort, Geneviève, additional, Pinson, Lucile, additional, Gaillard, Jean‐Baptiste, additional, Ragon, Clémence, additional, Perez, Marie‐Josée, additional, Tournaire, Magali, additional, Blanchet, Patricia, additional, Corsini, Carole, additional, Haquet, Emmanuelle, additional, Callier, Patrick, additional, Geneviève, David, additional, Pellestor, Franck, additional, and Puechberty, Jacques, additional

Published
2019
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45. Molecular epidemiology of DFNB1 deafness in France

Author

Molinari Nicolas, Lina Geneviève, Artières Françoise, Leprevost Dorothée, Templin Carine, Faugère Valérie, Vielle Anne, Pallares-Ruiz Nathalie, Roux Anne-Françoise, Blanchet Patricia, Mondain Michel, and Claustres Mireille

Subjects
Internal medicine, RC31-1245, Genetics, QH426-470
Abstract

Abstract Background Mutations in the GJB2 gene have been established as a major cause of inherited non syndromic deafness in different populations. A high number of sequence variations have been described in the GJB2 gene and the associated pathogenic effects are not always clearly established. The prevalence of a number of mutations is known to be population specific, and therefore population specific testing should be a prerequisite step when molecular diagnosis is offered. Moreover, population studies are needed to determine the contribution of GJB2 variants to deafness. We present our findings from the molecular diagnostic screening of the GJB2 and GJB6 genes over a three year period, together with a population-based study of GJB2 variants. Methods and results Molecular studies were performed using denaturing High Performance Liquid Chromatograghy (DHPLC) and sequencing of the GJB2 gene. Over the last 3 years we have studied 159 families presenting sensorineural hearing loss, including 84 with non syndromic, stable, bilateral deafness. Thirty families were genotyped with causative mutations. In parallel, we have performed a molecular epidemiology study on more than 3000 dried blood spots and established the frequency of the GJB2 variants in our population. Finally, we have compared the prevalence of the variants in the hearing impaired population with the general population. Conclusion Although a high heterogeneity of sequence variation was observed in patients and controls, the 35delG mutation remains the most common pathogenic mutation in our population. Genetic counseling is dependent on the knowledge of the pathogenicity of the mutations and remains difficult in a number of cases. By comparing the sequence variations observed in hearing impaired patients with those sequence variants observed in general population, from the same ethnic background, we show that the M34T, V37I and R127H variants can not be responsible for profound or severe deafness.

Published
2004
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46. CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays

Author

UCL - (SLuc) Centre de génétique médicale UCL, UCL - SSS/IREC/SLUC - Pôle St.-Luc, Legendre, Marine, Rodriguez - Ballesteros, Montserrat, Rossi, Massimiliano, Abadie, Véronique, Amiel, Jeanne, Revencu, Nicole, Blanchet, Patricia, Brioude, Frédéric, Delrue, Marie-Ange, Doubaj, Yassamine, Sefiani, Abdelaziz, Francannet, Christine, Holder-Espinasse, Muriel, Jouk, Pierre-Simon, Julia, Sophie, Melki, Judith, Mur, Sébastien, Naudion, Sophie, Fabre-Teste, Jennifer, Busa, Tiffany, Stamm, Stephen, Lyonnet, Stanislas, Attie-Bitach, Tania, Kitzis, Alain, Gilbert-Dussardier, Brigitte, Bilan, Frédéric, UCL - (SLuc) Centre de génétique médicale UCL, UCL - SSS/IREC/SLUC - Pôle St.-Luc, Legendre, Marine, Rodriguez - Ballesteros, Montserrat, Rossi, Massimiliano, Abadie, Véronique, Amiel, Jeanne, Revencu, Nicole, Blanchet, Patricia, Brioude, Frédéric, Delrue, Marie-Ange, Doubaj, Yassamine, Sefiani, Abdelaziz, Francannet, Christine, Holder-Espinasse, Muriel, Jouk, Pierre-Simon, Julia, Sophie, Melki, Judith, Mur, Sébastien, Naudion, Sophie, Fabre-Teste, Jennifer, Busa, Tiffany, Stamm, Stephen, Lyonnet, Stanislas, Attie-Bitach, Tania, Kitzis, Alain, Gilbert-Dussardier, Brigitte, and Bilan, Frédéric

Abstract

CHARGE syndrome is a rare genetic disorder mainly due to de novo and private truncating mutations of CHD7 gene. Here we report an intriguing hot spot of intronic mutations (c.5405-7G > A, c.5405-13G > A, c.5405-17G > A and c.5405-18C > A) located in CHD7 IVS25. Combining computational in silico analysis, experimental branch-point determination and in vitro minigene assays, our study explains this mutation hot spot by a particular genomic context, including the weakness of the IVS25 natural acceptor-site and an unconventional lariat sequence localized outside the common 40 bp upstream the acceptor splice site. For each of the mutations reported here, bioinformatic tools indicated a newly created 3' splice site, of which the existence was confirmed using pSpliceExpress, an easy-to-use and reliable splicing reporter tool. Our study emphasizes the idea that combining these two complementary approaches could increase the efficiency of routine molecular diagnosis.

Published
2018

47. Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients

Author

Lefebvre, Mathilde, primary, Dieux-Coeslier, Anne, additional, Baujat, Geneviève, additional, Schaefer, Elise, additional, Judith, Saint-Onge, additional, Bazin, Anne, additional, Pinson, Lucile, additional, Attie-Bitach, Tania, additional, Baumann, Clarisse, additional, Fradin, Melanie, additional, Pierquin, Genevieve, additional, Julia, Sophie, additional, Quélin, Chloé, additional, Doray, Bérénice, additional, Berg, Sylvie, additional, Vincent-Delorme, Catherine, additional, Lambert, Laetitia, additional, Bachmann, Nadine, additional, Lacombe, Didier, additional, Isidor, Bertrand, additional, Laurent, Nicole, additional, Joelle, Roume, additional, Blanchet, Patricia, additional, Odent, Sylvie, additional, Kervran, Dominique, additional, Leporrier, Nathalie, additional, Abel, Carine, additional, Segers, Karine, additional, Guiliano, Fabienne, additional, Ginglinger-Fabre, Emmanuelle, additional, Selicorni, Angelo, additional, Goldenberg, Alice, additional, El Chehadeh, Salima, additional, Francannet, Christine, additional, Demeer, Benedicte, additional, Duffourd, Yannis, additional, Thauvin-Robinet, Christel, additional, Verloes, Alain, additional, Cormier-Daire, Valerie, additional, Riviere, Jean Baptiste, additional, Faivre, Laurence, additional, and Thevenon, Julien, additional

Published
2018
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48. CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays

Author

Legendre, Marine, primary, Rodriguez - Ballesteros, Montserrat, additional, Rossi, Massimiliano, additional, Abadie, Véronique, additional, Amiel, Jeanne, additional, Revencu, Nicole, additional, Blanchet, Patricia, additional, Brioude, Frédéric, additional, Delrue, Marie-Ange, additional, Doubaj, Yassamine, additional, Sefiani, Abdelaziz, additional, Francannet, Christine, additional, Holder-Espinasse, Muriel, additional, Jouk, Pierre-Simon, additional, Julia, Sophie, additional, Melki, Judith, additional, Mur, Sébastien, additional, Naudion, Sophie, additional, Fabre-Teste, Jennifer, additional, Busa, Tiffany, additional, Stamm, Stephen, additional, Lyonnet, Stanislas, additional, Attie-Bitach, Tania, additional, Kitzis, Alain, additional, Gilbert-Dussardier, Brigitte, additional, and Bilan, Frédéric, additional

Published
2017
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49. EDNRBmutations cause Waardenburg syndrome type II in the heterozygous state

Author

UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Service d'oto-rhino-laryngologie, UCL - (SLuc) Centre de génétique médicale UCL, Issa, Sarah, Bondurand, Nadege, Faubert, Emmanuelle, Poisson, Sylvain, Lecerf, Laure, Nitschke, Patrick, Deggouj, Naima, Loundon, Natalie, Jonard, Laurence, David, Albert, Sznajer, Yves, Blanchet, Patricia, Marlin, Sandrine, Pingault, Veronique, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Service d'oto-rhino-laryngologie, UCL - (SLuc) Centre de génétique médicale UCL, Issa, Sarah, Bondurand, Nadege, Faubert, Emmanuelle, Poisson, Sylvain, Lecerf, Laure, Nitschke, Patrick, Deggouj, Naima, Loundon, Natalie, Jonard, Laurence, David, Albert, Sznajer, Yves, Blanchet, Patricia, Marlin, Sandrine, and Pingault, Veronique

Abstract

Waardenburg syndrome (WS) is a genetic disorder characterized by sensorineural hearing loss and pigmentation anomalies. The clinical definition of four WS types is based on additional features due to defects in structures mostly arising from the neural crest, with type I and type II being the most frequent. While type I is tightly associated to PAX3 mutations, WS type II (WS2) remains partly enigmatic with mutations in known genes (MITF, SOX10) accounting for only 30% of the cases. We performed exome sequencing in a WS2 index case and identified a heterozygous missense variation in EDNRB. Interestingly, homozygous (and very rare heterozygous) EDNRB mutations are already described in type IV WS (i.e., in association with Hirschsprung disease [HD]) and heterozygous mutations in isolated HD. Screening of a WS2 cohort led to the identification of an overall of six heterozygous EDNRB variations. Clinical phenotypes, pedigrees and molecular segregation investigations unraveled a dominant mode of inheritance with incomplete penetrance. In parallel, cellular and functional studies showed that each of the mutations impairs the subcellular localization of the receptor or induces a defective downstream signaling pathway. Based on our results, we now estimate EDNRB mutations to be responsible for 5%-6% of WS2.

Published
2017

50. Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans

Author

Humbert, Camille, Silbermann, Flora, Morar, Bharti, Parisot, Mélanie, Zarhrate, Mohammed, Masson, Cécile, Tores, Frédéric, Blanchet, Patricia, Perez, Marie-José, Petrov, Yuliya, Khau Van Kien, Philippe, Roume, Joelle, Leroy, Brigitte, Gribouval, Olivier, Kalaydjieva, Luba, Heidet, Laurence, Salomon, Rémi, Antignac, Corinne, Benmerah, Alexandre, Saunier, Sophie, and Jeanpierre, Cécile

Published
2014
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