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48 results on '"Collod-Béroud, Gwenaëlle"'

1. Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish

Author

Odelin, Gaëlle, Faucherre, Adèle, Marchese, Damien, Pinard, Amélie, Jaouadi, Hager, Le Scouarnec, Solena, Chiarelli, Raphaël, Achouri, Younes, Faure, Emilie, Herbane, Marine, Théron, Alexis, Avierinos, Jean-François, Jopling, Chris, Collod-Béroud, Gwenaëlle, Rezsohazy, René, and Zaffran, Stéphane

Subjects
Heart Disease, Congenital Structural Anomalies, Cardiovascular, Genetics, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Animals, Mice, Aortic Valve, Bicuspid Aortic Valve Disease, Heart Valve Diseases, Histidine, Zebrafish, Zebrafish Proteins, Homeodomain Proteins, FranceGenRef Consortium
Abstract

Bicuspid aortic valve (BAV), the most common cardiovascular malformation occurs in 0.5-1.2% of the population. Although highly heritable, few causal mutations have been identified in BAV patients. Here, we report the targeted sequencing of HOXA1 in a cohort of BAV patients and the identification of rare indel variants in the homopolymeric histidine tract of HOXA1. In vitro analysis shows that disruption of this motif leads to a significant reduction in protein half-life and defective transcriptional activity of HOXA1. In zebrafish, targeting hoxa1a ortholog results in aortic valve defects. In vivo assays indicates that these variants behave as dominant negatives leading abnormal valve development. In mice, deletion of Hoxa1 leads to BAV with a very small, rudimentary non-coronary leaflet. We also show that 17% of homozygous Hoxa1-1His knock-in mice present similar phenotype. Genetic lineage tracing in Hoxa1-/- mutant mice reveals an abnormal reduction of neural crest-derived cells in the valve leaflet, which is caused by a failure of early migration of these cells.

Published
2023

4. Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias

Author

Le Goff, Carine, Mahaut, Clémentine, Wang, Lauren W., Allali, Slimane, Abhyankar, Avinash, Jensen, Sacha, Zylberberg, Louise, Collod-Beroud, Gwenaelle, Bonnet, Damien, Alanay, Yasemin, Brady, Angela F., Cordier, Marie-Pierre, Devriendt, Koen, Genevieve, David, Kiper, Pelin Özlem Simsek, Kitoh, Hiroshi, Krakow, Deborah, Lynch, Sally Ann, Le Merrer, Martine, Mégarbane, André, Mortier, Geert, Odent, Sylvie, Polak, Michel, Rohrbach, Marianne, Sillence, David, Stolte-Dijkstra, Irene, Superti-Furga, Andrea, Rimoin, David L., Topouchian, Vicken, Unger, Sheila, Zabel, Bernhard, Bole-Feysot, Christine, Nitschke, Patrick, Handford, Penny, Casanova, Jean-Laurent, Boileau, Catherine, Apte, Suneel S., Munnich, Arnold, and Cormier-Daire, Valérie

Published
2011
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10. The FBN2 Gene: New Mutations, Locus-Specific Database (Universal Mutation Database FBN2), and Genotype-Phenotype Correlations

Author

Frédéric, Melissa Yana, Monino, Christine, Marschall, Christoph, Hamroun, Dalil, Faivre, Laurence, Jondeau, Guillaume, Klein, Hanns-Georg, Neumann, Luitgard, Gautier, Elodie, Binquet, Christine, Maslen, Cheryl, Godfrey, Maurice, Gupta, Prateek, Milewicz, Dianna, Boileau, Catherine, Claustres, Mireille, Béroud, Christophe, and Collod-Béroud, Gwenaëlle

Published
2009
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13. Identification of 23 TGFBR2 and 6 TGFBR1 Gene Mutations and Genotype-phenotype Investigations in 457 Patients with Marfan Syndrome Type I and II, Loeys-Dietz Syndrome and Related Disorders

Author

Stheneur, Chantal, Collod-Béroud, Gwenaëlle, Faivre, Laurence, Gouya, Laurent, Sultan, Gilles, Parc, Jean-Marie Le, Moura, Bertrand, Attias, David, Muti, Christine, Sznajder, Marc, Claustres, Mireille, Junien, Claudine, Baumann, Clarisse, Cormier-Daire, Valérie, Rio, Marlène, Lyonnet, Stanislas, Plauchu, Henri, Lacombe, Didier, Chevallier, Bertrand, Jondeau, Guillaume, and Boileau, Catherine

Published
2008
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16. Piezo1 is required for outflow tract and aortic valve development

Author

Faucherre, Adèle, primary, Moha ou Maati, Hamid, additional, Nasr, Nathalie, additional, Pinard, Amélie, additional, Theron, Alexis, additional, Odelin, Gaëlle, additional, Desvignes, Jean-Pierre, additional, Salgado, David, additional, Collod-Béroud, Gwenaëlle, additional, Avierinos, Jean-François, additional, Lebon, Guillaume, additional, Zaffran, Stéphane, additional, and Jopling, Chris, additional

Published
2019
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17. BRCA Share: A Collection of Clinical BRCA Gene Variants

Author

Béroud , Christophe, Letovsky , Stanley I., Braastad , Corey D., Caputo , Sandrine M., Beaudoux , Olivia, Bignon , Yves Jean, Paillerets , Brigitte Bressac-De, Bronner , Myriam, Buell , Crystal M., Collod-Béroud , Gwenaëlle, Coulet , Florence, Derive , Nicolas, Divincenzo , Christina, Elzinga , Christopher D., Garrec , Celine, Houdayer , Claude, Karbassi , Izabela, Lizard , Sarab, Love , Angela, Muller , Danièle, Nagan , Narasimhan, Nery , Camille R., Rai , Ghadi, Révillion , Françoise, Salgado , David, Sevenet , Nicolas, Sinilnikova , Olga, Sobol , Hagay, Stoppa-Lyonnet , Dominique, Toulas , Christine, Trautman , Edwin, Vaur , Dominique, Vilquin , Paul, Weymouth , Katelyn S., Willis , Alecia, Eisenberg , Marcia, Strom , Charles M., Variant , Lab Corp Amer, Variant , Quest Diagnostics, Lab , UNICANCER Genetic Grp BRCA, Génétique Médicale et Génomique Fonctionnelle ( GMGF ), Aix Marseille Université ( AMU ) -Assistance Publique - Hôpitaux de Marseille ( APHM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Centre de Recherche Saint-Antoine ( CR Saint-Antoine ), Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Institut de biochimie et génétique cellulaires ( IBGC ), Université Bordeaux Segalen - Bordeaux 2-Centre National de la Recherche Scientifique ( CNRS ), Service de génétique, Institut Curie Paris, Université Paris Descartes - Paris 5 ( UPD5 ), Unité d'oncogénétique, CRLCC Paul Strauss, Laboratoire d'Oncologie Moléculaire Humaine, CRLCC Oscar Lambret, Validation et identification de nouvelles cibles en oncologie ( VINCO ), Université Bordeaux Segalen - Bordeaux 2-Institut Bergonié - CRLCC Bordeaux-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Centre de Recherche en Cancérologie de Lyon ( CRCL ), Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon-Université de Lyon-Centre Léon Bérard [Lyon]-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Léon Bérard [Lyon]-Hospices Civils de Lyon ( HCL ), Hôpital Sainte-Marguerite [CHU - APHM] ( Hôpitaux Sud ), Service d'Oncologie Génétique, de Prévention et Dépistage, Unité de génétique et biologie des cancers ( U830 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut Curie-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Equipe 11-E.Moyal/C.Toulas, Centre de Recherche en Cancérologie de Toulouse ( CRCT ), Université Paul Sabatier - Toulouse 3 ( UPS ) -CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse]-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Paul Sabatier - Toulouse 3 ( UPS ) -CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse]-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Department of Cancer Biology and Genetics, Centre Régional de Lutte contre le Cancer François Baclesse ( CRLC François Baclesse ), Génétique du cancer et des maladies neuropsychiatriques ( GMFC ), Université de Rouen Normandie ( UNIROUEN ), Normandie Université ( NU ) -Normandie Université ( NU ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), and McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine

Subjects
breast cancer, ovarian cancer, endocrine system diseases, [ SDV.BBM.GTP ] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], NGS, genetic databases, BRCA1, variant classification, BRCA2
Abstract

International audience; As next-generation sequencing increases access to human genetic variation, the challenge of determining clinical significance of variants becomes ever more acute. Germline variants in the BRCA1 and BRCA2 genes can confer substantial lifetime risk of breast and ovarian cancer. Assessment of variant pathogenicity is a vital part of clinical genetic testing for these genes. A database of clinical observations of BRCA variants is a critical resource in that process. This article describes BRCA ShareTM, a database created by a unique international alliance of academic centers and commercial testing laboratories. By integrating the content of the Universal Mutation Database generated by the French Unicancer Genetic Group with the testing results of two large commercial laboratories, Quest Diagnostics and Laboratory Corporation of America (LabCorp), BRCA ShareTM has assembled one of the largest publicly accessible collections of BRCA variants currently available. Although access is available to academic researchers without charge, commercial participants in the project are required to pay a support fee and contribute their data. The fees fund the ongoing curation effort, as well as planned experiments to functionally characterize variants of uncertain significance. BRCA ShareTM databases can therefore be considered as models of successful data sharing between private companies and the academic world. (C) 2016 Wiley Periodicals, Inc.

Published
2016
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18. Writing tremor: Should we look for a TOR1A mutation?

Author

Aerts, Cécile, primary, Cassim, François, additional, Strubi-Vuillaume, Isabelle, additional, Destée, Alain, additional, Sablonnière, Bernard, additional, Collod-Béroud, Gwenaëlle, additional, Defebvre, Luc, additional, and Kreisler, Alexandre, additional

Published
2017
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19. The revised ghent nosology; reclassifying isolated ectopia lentis

Author

Chandra, A., Patel, D., Aragon-Martin, A., Pinard, Amélie, Collod-Béroud, Gwenaëlle, Comeglio, C, Boileau, C., Faivre, L., Charteris, D., Child, A H, Arno, G., Moorfields Eye Hospital [London], UCL Institute of Ophthalmology, University College of London [London] ( UCL ), St Georges University of London, Génétique Médicale et Génomique Fonctionnelle ( GMGF ), Aix Marseille Université ( AMU ) -Assistance Publique - Hôpitaux de Marseille ( APHM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement ( Inserm U781 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Génétique des Anomalies du Développement ( GAD ), Université de Bourgogne ( UB ) -IFR100 - Structure fédérative de recherche Santé-STIC, Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ), University College of London [London] (UCL), Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Génétique des Anomalies du Développement (GAD), Université de Bourgogne (UB)-IFR100 - Structure fédérative de recherche Santé-STIC, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), COLLOD-BEROUD, Gwenaëlle, and IFR100 - Structure fédérative de recherche Santé-STIC-Université de Bourgogne (UB)

Subjects
musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, ectopia lentis, Genotype, Fibrillin-1, Microfilament Proteins, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Fibrillins, Marfan syndrome, Phenotype, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.MHEP.OS] Life Sciences [q-bio]/Human health and pathology/Sensory Organs, [ SDV.MHEP.OS ] Life Sciences [q-bio]/Human health and pathology/Sensory Organs, isolated ectopia lentis, Humans, FBN1, [SDV.MHEP.OS]Life Sciences [q-bio]/Human health and pathology/Sensory Organs, mutation, [ SDV.GEN.GH ] Life Sciences [q-bio]/Genetics/Human genetics
Abstract

International audience; Inherited ectopia lentis (EL) is most commonly caused by Marfan syndrome (MFS), a multisystemic disorder caused by mutations in FBN1. Historically the diagnosis for patients with EL who have no systemic features of MFS is isolated EL (IEL). However, the Ghent nosology for MFS was updated in 2010 and made some important alterations. In particular, patients with EL and a FBN1 mutation are now categorically diagnosed with MFS, if their mutation has previously been described with aortic dilation/dissection. This carries significant systemic implications, as many patients previously diagnosed with IEL are now reclassified. We provide a review of all published cases of IEL caused by FBN1 mutations over the last 20 years to assess what impact the new Ghent nosology has on these. Indeed, 57/123 probands (46.3%) are now classified as MFS according to the revised Ghent nosology and 37/96 mutations (38.5%) reported to cause isolated EL have also been found in patients with aortic dilation/dissection. These findings suggest that EL caused by mutations in FBN1 is actually part of a spectrum of fibrillinopathies with MFS, and the term 'IEL' should be avoided in such cases.

Published
2015
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21. WES/WGS Reporting of Mutations from Cardiovascular “Actionable” Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases

Author

Pinard, Amélie, primary, Salgado, David, additional, Desvignes, Jean-Pierre, additional, Rai, Ghadi, additional, Hanna, Nadine, additional, Arnaud, Pauline, additional, Guien, Céline, additional, Martinez, Maria, additional, Faivre, Laurence, additional, Jondeau, Guillaume, additional, Boileau, Catherine, additional, Zaffran, Stéphane, additional, Béroud, Christophe, additional, and Collod-Béroud, Gwenaëlle, additional

Published
2016
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22. Actionable Genes, Core Databases, and Locus-Specific Databases

Author

Pinard, Amélie, primary, Miltgen, Morgane, additional, Blanchard, Arnaud, additional, Mathieu, Hélène, additional, Desvignes, Jean-Pierre, additional, Salgado, David, additional, Fabre, Aurélie, additional, Arnaud, Pauline, additional, Barré, Laura, additional, Krahn, Martin, additional, Grandval, Philippe, additional, Olschwang, Sylviane, additional, Zaffran, Stéphane, additional, Boileau, Catherine, additional, Béroud, Christophe, additional, and Collod-Béroud, Gwenaëlle, additional

Published
2016
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24. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

Author

Callier , P., Aral , B., Hanna , N., Lambert , S., Dindy , H., Ragon , C., Payet , M., Collod-Béroud , Gwenaëlle, Carmignac , V., Delrue , M. A., Goizet , C., Philip , N., Busa , Tiffany, Dulac , Y., Missotte , I., Sznajer , Y., Toutain , A., Francannet , C., Megarbane , A., Julia , S., Edouard , T., Sarda , P., Amiel , J., Lyonnet , S., Cormier-Daire , V., Gilbert , B., Jacquette , A., Heron , D., Collignon , P., Lacombe , D., Morice-Picard , F., Jouk , P. S., Cusin , V., Willems , M., Sarrazin , E., Amarof , K., Coubes , C., Addor , M. C., Journel , H., Colin , E., Khau Van Kien , P., Baumann , C., Leheup , B., Martin-Coignard , D., Doco-Fenzy , M., Goldenberg , A., Plessis , G., Thevenon , J., Pasquier , L., Odent , S., Vabres , P., Huet , F., Marle , N., Mosca-Boidron , A. L., Mugneret , F., Gauthier , S., Binquet , C., Thauvin-Robinet , C., Jondeau , G., Boileau , C., Faivre , L., Equipe GAD (LNC - U1231), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM), Laboratoire de cytogénétique (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Hôpital Ambroise Paré [AP-HP], Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de génétique médicale, Université de Bordeaux (UB)-CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de génétique médicale [Toulouse], CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], Centre hospitalier territorial Gaston-Bourret [Nouméa], Cliniques Universitaires Saint-Luc [Bruxelles], Service de génétique [Tours], Hôpital Bretonneau-Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), CHU Clermont-Ferrand, Université Saint-Joseph de Beyrouth (USJ), Service Pédiatrique [Toulouse], CHU Toulouse [Toulouse]-Hôpital des Enfants, Service de génétique médicale [Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Arnaud de Villeneuve, Service de Génétique Médicale [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service Génétique Médicale [CHU Poitiers], Centre hospitalier universitaire de Poitiers (CHU Poitiers), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital intercommunal de Font-Pré, Département de génétique, Université Joseph Fourier - Grenoble 1 (UJF)-CHU Grenoble, Consultation Marfan, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bichat, Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Pierre Zobda-Quitman [CHU de la Martinique], CHU de la Martinique [Fort de France], Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), Centre hospitalier de Vannes, Service de 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), Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Centre Hospitalier Le Mans (CH Le Mans), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Service de génétique [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), 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), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Service Génétique Médicale [CHU Toulouse], Institut Fédératif de Biologie (IFB), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Pôle Biologie [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, Pôle Enfants [CHU Toulouse], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Lipides - Nutrition - Cancer [Dijon - U1231] ( LNC ), Université de Bourgogne ( UB ) -AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université de Bourgogne ( UB ) -AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ), Hôpital Ambroise Paré, Génétique Médicale et Génomique Fonctionnelle ( GMGF ), Aix Marseille Université ( AMU ) -Assistance Publique - Hôpitaux de Marseille ( APHM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Université de Bordeaux ( UB ) -CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Centre de résonance magnétique biologique et médicale ( CRMBM ), Aix Marseille Université ( AMU ) -Assistance Publique - Hôpitaux de Marseille ( APHM ) -Centre National de la Recherche Scientifique ( CNRS ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ) -Assistance Publique - Hôpitaux de Marseille ( APHM ) -Aix Marseille Université ( AMU ), Hôpital Bretonneau-CHRU Tours, Université Saint-Joseph de Beyrouth ( USJ ), Centre Hospitalier Régional Universitaire [Montpellier] ( CHRU Montpellier ) -Hôpital Arnaud de Villeneuve, CHU Necker - Enfants Malades [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP), Centre hospitalier universitaire de Poitiers ( CHU Poitiers ), CHU Pitié-Salpêtrière [APHP], Université Joseph Fourier - Grenoble 1 ( UJF ) -CHU Grenoble, Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Bichat, Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement ( Inserm U781 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), CHU de la Martinique, Centre Hospitalier Universitaire Vaudois [Lausanne] ( CHUV ), Université d'Angers ( UA ) -CHU Angers, Institut de génétique humaine ( IGH ), Université de Montpellier ( UM ) -Centre National de la Recherche Scientifique ( CNRS ), Nutrition-Génétique et Exposition aux Risques Environnementaux ( NGERE ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université de Lorraine ( UL ), CHU Le MAns, CHU Rouen-Université de Rouen Normandie ( UNIROUEN ), Normandie Université ( NU ) -Normandie Université ( NU ), Institut de Génétique et Développement de Rennes ( IGDR ), Université de Rennes 1 ( UR1 ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -Centre National de la Recherche Scientifique ( CNRS ) -Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), 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 ), Jonchère, Laurent, Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Aix Marseille Université ( AMU ) -Assistance Publique - Hôpitaux de Marseille ( APHM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Assistance publique - Hôpitaux de Paris (AP-HP)-Hopital Necker-Enfants Malades, CHU de Poitiers, and Université de Lorraine ( UL ) -Institut National de la Santé et de la Recherche Médicale ( INSERM )

Subjects
Adult, Male, musculoskeletal diseases, Comparative Genomic Hybridization, congenital, hereditary, and neonatal diseases and abnormalities, [ SDV ] Life Sciences [q-bio], Adolescent, [SDV]Life Sciences [q-bio], Sequence Analysis, DNA, Middle Aged, Marfan Syndrome, [SDV] Life Sciences [q-bio], Young Adult, X Chromosome Inactivation, Child, Preschool, Intellectual Disability, Cytogenetic Analysis, Mutation, Humans, Female, Genetic Testing, Prospective Studies, Child
Abstract

International audience; The association of marfanoid habitus (MH) and intellectual disability (ID) has been reported in the literature, with overlapping presentations and genetic heterogeneity. A hundred patients (71 males and 29 females) with a MH and ID were recruited. Custom-designed 244K array-CGH (Agilent®; Agilent Technologies Inc., Santa Clara, CA) and MED12, ZDHHC9, UPF3B, FBN1, TGFBR1 and TGFBR2 sequencing analyses were performed. Eighty patients could be classified as isolated MH and ID: 12 chromosomal imbalances, 1 FBN1 mutation and 1 possibly pathogenic MED12 mutation were found (17%). Twenty patients could be classified as ID with other extra-skeletal features of the Marfan syndrome (MFS) spectrum: 4 pathogenic FBN1 mutations and 4 chromosomal imbalances were found (2 patients with both FBN1 mutation and chromosomal rearrangement) (29%). These results suggest either that there are more loci with genes yet to be discovered or that MH can also be a relatively non-specific feature of patients with ID. The search for aortic complications is mandatory even if MH is associated with ID since FBN1 mutations or rearrangements were found in some patients. The excess of males is in favour of the involvement of other X-linked genes. Although it was impossible to make a diagnosis in 80% of patients, these results will improve genetic counselling in families.

Published
2013
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25. In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome

Author

Carmignac, Virginie, Thevenon, Julien, Adès, Lesley, Callewaert, Bert, Julia, Sophie, Thauvin-Robinet, Christel, Gueneau, Lucie, Courcet, Jean-Benoit, Lopez, Estelle, Holman, Katherine, Renard, Marjolijn, Plauchu, Henri, Plessis, Ghislaine, De Backer, Julie, Child, Anne, Arno, Gavin, Duplomb, Laurence, Callier, Patrick, Aral, Bernard, Vabres, Pierre, Gigot, Nadège, Arbustini, Eloisa, Grasso, Maurizia, Robinson, Peter N., Goizet, Cyril, Baumann, Clarisse, Di Rocco, Maja, Sanchez Del Pozo, Jaime, Huet, Frédéric, Jondeau, Guillaume, Collod-Beroud, Gwenaëlle, Beroud, Christophe, Amiel, Jeanne, Cormier-Daire, Valérie, Rivière, Jean-Baptiste, Boileau, Catherine, De Paepe, Anne, and Faivre, Laurence

Published
2012
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26. Bioinformatics identification of splice site signals and prediction of mutation effects

Author

Desmet, François-Olivier, Hamroun, Dalil, Collod-Béroud, Gwenaëlle, Claustres, Mireille, Béroud, Christophe, Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques (LGMR), Université Montpellier 1 (UM1)-IFR3, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), RM Mohan, and COLLOD-BEROUD, Gwenaëlle

Subjects
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM], [SDV.BBM.BM] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, [INFO.INFO-BI] Computer Science [cs]/Bioinformatics [q-bio.QM]
Abstract

International audience; Maturation of mRNA in eukaryotes is a very complex process that includes exon recognition through specific elements such as branch point motifs , 5' and 3' splice sites and splicing regulators. Mutations may affect these signals either directly by disrupting constitutive splice sites or indirectly by creating cryptic splice sites. We thus evaluated the prediction efficiency of nine software programs based on Position Weight Matrices, Markov Models, Maximal Dependence Decomposition, Neural Networks or Feature Generation Algorithms using 623 mutations for which the consequence on mRNA has been demonstrated in vitro. Position Weight Matrix-based tools were the most efficient in predicting the impact of a given mutation. Overall, at least one system correctly predicted 100% of mutations affecting invariant positions as well as-1, +3 and +5 positions of the 5'ss. Deep intronic mutations resulting in the activation of cryptic exons were almost all correctly predicted (92.31%), while other intronic mutations were less efficiently (70-80%). Exonic mutations that create cryptic splice sites were also efficiently detected (70%). Because of the prediction heterogeneity and specificity, a single tool could not be used for all predictions. Moreover, since these systems are all based on text analysis an in vitro validation step is still required.

Published
2010

28. Contribution of genetics to pathogenicity and diagnosis of Marfan syndrome]

Author

Boileau, C, Collod-Béroud, Gwenaëlle, Bonnet, D, Génétique, chromosome et cancer, Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Génétique Médicale et Génomique Fonctionnelle (GMGF), and Aix Marseille Université (AMU) - Assistance Publique - Hôpitaux de Marseille (APHM) - Hôpital de la Timone [CHU - APHM] (TIMONE) - Institut National de la Santé et de la Recherche Médicale (INSERM) - Centre National de la Recherche Scientifique (CNRS)

Subjects
musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, integumentary system, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, cardiovascular diseases, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, [SDV.BBM.BM] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, [SDV.MHEP.CSC] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system
Abstract

International audience; The anatomical substrate of Marfan's syndrome is a degeneration of elastic fibres and disorganization of the collagen. It is now known that these lesions are due to mutation of genes localised on chromosome 15. The first of them (FBN1) codes for the main constitutive protein of the elastic tissue: fibrillin 1, present mainly in structures which must resist load and stress (aortic adventitia, the suspending ligament of the lens, skin); the second (FBN2) codes for fibrillin 2: responsible for the orientation of the elastin and mainly present in cartilage, the aortic media, the bronchi, and all tissues rich in elastin. Mutations of FBN1 are very common and are associated not only with Marfan's syndrome but also fibrillinopathies: incomplete forms, neonatal forms, ectopic lens, isolated aneurysms of the thoracic aorta. The widespread distribution of fibrillin explains the pleiotropic nature of Marfan's syndrome and its clinical presentation. The variability of interfamilial expression is due to genetic heterogeneity (at least two genes) and alletic differences (different mutations of FBN1 from one family to another), also explaining mild forms due to quantitative reduction in normal fibrillin and severe forms by "negative dominance" where the fibrillin is structurally abnormal because of alteration of the polymerisation mechanism. The biologic diagnosis of fibrillopathy can be made by a protein test analysing fibrillin on a culture of the patient's fibroblast obtained by skin biopsy. At present, molecular diagnosis of the mutation within the FBN1 gene is not feasible as a routine procedure.

Published
1997

29. Prognosis Factors in Probands With an FBN1 Mutation Diagnosed Before the Age of 1 Year

Author

Stheneur, Chantal, primary, Faivre, Laurence, additional, Collod-Béroud, Gwenaëlle, additional, Gautier, Elodie, additional, Binquet, Christine, additional, Bonithon-Kopp, Claire, additional, Claustres, Mireille, additional, Child, Anne H, additional, Arbustini, Eloisa, additional, Adès, Lesley C, additional, Francke, Uta, additional, Mayer, Karin, additional, Arslan-Kirchner, Mine, additional, De Paepe, Anne, additional, Chevallier, Bertrand, additional, Bonnet, Damien, additional, Jondeau, Guillaume, additional, and Boileau, Catherine, additional

Published
2011
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30. Comparison of Clinical Presentations and Outcomes Between Patients With TGFBR2 and FBN1 Mutations in Marfan Syndrome and Related Disorders

Author

Attias, David, primary, Stheneur, Chantal, additional, Roy, Carine, additional, Collod-Béroud, Gwenaëlle, additional, Detaint, Delphine, additional, Faivre, Laurence, additional, Delrue, Marie-Ange, additional, Cohen, Laurence, additional, Francannet, Christine, additional, Béroud, Christophe, additional, Claustres, Mireille, additional, Iserin, Franck, additional, Khau Van Kien, Philippe, additional, Lacombe, Didier, additional, Le Merrer, Martine, additional, Lyonnet, Stanislas, additional, Odent, Sylvie, additional, Plauchu, Henri, additional, Rio, Marlène, additional, Rossi, Annick, additional, Sidi, Daniel, additional, Steg, Philippe Gabriel, additional, Ravaud, Philippe, additional, Boileau, Catherine, additional, and Jondeau, Guillaume, additional

Published
2009
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32. Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene

Author

Stheneur, Chantal, primary, Collod-Béroud, Gwenaëlle, additional, Faivre, Laurence, additional, Buyck, Jean François, additional, Gouya, Laurent, additional, Le Parc, Jean-Marie, additional, Moura, Bertrand, additional, Muti, Christine, additional, Grandchamp, Bernard, additional, Sultan, Gilles, additional, Claustres, Mireille, additional, Aegerter, Philippe, additional, Chevallier, Bertrand, additional, Jondeau, Guillaume, additional, and Boileau, Catherine, additional

Published
2009
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33. Clinical and Molecular Study of 320 Children With Marfan Syndrome and Related Type I Fibrillinopathies in a Series of 1009 Probands With Pathogenic FBN1 Mutations

Author

Faivre, Laurence, primary, Masurel-Paulet, Alice, additional, Collod-Béroud, Gwenaëlle, additional, Callewaert, Bert L., additional, Child, Anne H., additional, Stheneur, Chantal, additional, Binquet, Christine, additional, Gautier, Elodie, additional, Chevallier, Bertrand, additional, Huet, Frédéric, additional, Loeys, Bart L., additional, Arbustini, Eloisa, additional, Mayer, Karin, additional, Arslan-Kirchner, Mine, additional, Kiotsekoglou, Anatoli, additional, Comeglio, Paolo, additional, Grasso, Maurizia, additional, Halliday, Dorothy J., additional, Béroud, Christophe, additional, Bonithon-Kopp, Claire, additional, Claustres, Mireille, additional, Robinson, Peter N., additional, Adès, Lesley, additional, De Backer, Julie, additional, Coucke, Paul, additional, Francke, Uta, additional, De Paepe, Anne, additional, Boileau, Catherine, additional, and Jondeau, Guillaume, additional

Published
2009
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34. Identification of 23TGFBR2and 6TGFBR1gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders

Author

Stheneur, Chantal, primary, Collod-Béroud, Gwenaëlle, additional, Faivre, Laurence, additional, Gouya, Laurent, additional, Sultan, Gilles, additional, Le Parc, Jean-Marie, additional, Moura, Bertrand, additional, Attias, David, additional, Muti, Christine, additional, Sznajder, Marc, additional, Claustres, Mireille, additional, Junien, Claudine, additional, Baumann, Clarisse, additional, Cormier-Daire, Valérie, additional, Rio, Marlène, additional, Lyonnet, Stanislas, additional, Plauchu, Henri, additional, Lacombe, Didier, additional, Chevallier, Bertrand, additional, Jondeau, Guillaume, additional, and Boileau, Catherine, additional

Published
2008
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35. TheFBN2gene: new mutations, locus-specific database (Universal Mutation DatabaseFBN2), and genotype-phenotype correlations

Author

Frédéric, Melissa Yana, primary, Monino, Christine, additional, Marschall, Christoph, additional, Hamroun, Dalil, additional, Faivre, Laurence, additional, Jondeau, Guillaume, additional, Klein, Hanns-Georg, additional, Neumann, Luitgard, additional, Gautier, Elodie, additional, Binquet, Christine, additional, Maslen, Cheryl, additional, Godfrey, Maurice, additional, Gupta, Prateek, additional, Milewicz, Dianna, additional, Boileau, Catherine, additional, Claustres, Mireille, additional, Béroud, Christophe, additional, and Collod-Béroud, Gwenaëlle, additional

Published
2008
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37. Update of the UMD-FBN1mutation database and creation of anFBN1polymorphism database

Author

Collod-Béroud, Gwenaëlle, primary, Le Bourdelles, Saga, additional, Ades, Lesley, additional, Ala-Kokko, Leena, additional, Booms, Patrick, additional, Boxer, Maureen, additional, Child, Anne, additional, Comeglio, Paolo, additional, De Paepe, Anne, additional, Hyland, James C., additional, Holman, Katerine, additional, Kaitila, Ilkka, additional, Loeys, Bart, additional, Matyas, Gabor, additional, Nuytinck, Lieve, additional, Peltonen, Leena, additional, Rantamaki, Terhi, additional, Robinson, Peter, additional, Steinmann, Beat, additional, Junien, Claudine, additional, Béroud, Christophe, additional, and Boileau, Catherine, additional

Published
2003
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42. Prognosis Factors in Probands With an FBN1Mutation Diagnosed Before the Age of 1 Year

Author

STHENEUR, CHANTAL, FAIVRE, LAURENCE, COLLOD-BÉROUD, GWENAËLLE, GAUTIER, ELODIE, BINQUET, CHRISTINE, BONITHON-KOPP, CLAIRE, CLAUSTRES, MIREILLE, CHILD, ANNE H., ARBUSTINI, ELOISA, ADÈS, LESLEY C., FRANCKE, UTA, MAYER, KARIN, ARSLAN-KIRCHNER, MINE, DE PAEPE, ANNE, CHEVALLIER, BERTRAND, BONNET, DAMIEN, JONDEAU, GUILLAUME, and BOILEAU, CATHERINE

Abstract

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder. Diagnostic criteria of neonatal MFS (nMFS), the most severe form, are still debated. The aim of our study was to search for clinical and molecular prognostic factors that could be associated with length of survival. Probands ascertained via the framework of the Universal Marfan database-FBN1, diagnosed before the age of 1 y and presenting with cardiovascular features (aortic root dilatation or valvular insufficiency) were included in this study. Clinical and molecular data were correlated to survival. Among the 60 individuals, 38 had died, 82% died before the age of 1 y, mostly because of congestive heart failure. Three probands reached adulthood. Valvular insufficiencies and diaphragmatic hernia were predictive of shorter life expectancy. Two FBN1mutations were found outside of the exon 24–32 region (in exons 4 and 21). Mutations in exons 25–26 were overrepresented and were associated with shorter survival (p0.03). We report the largest genotyped series of probands with MFS diagnosed before 1 y of life. In this population, factors significantly associated with shorter survival are presence of valvular insufficiencies or diaphragmatic hernia in addition to a mutation in exons 25 or 26.

Published
2011
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43. Marfan Database (third edition): new mutations and new routines for the software.

Author

Collod‐Béroud, Gwenaëlle, Béroud, Christophe, Ades, Lesley, Black, Cheryl, Boxer, Maureen, Brock, David J. H., Holman, Katherine J., de Paepe, Anne, Francke, Uta, Grau, Ulrich, Hayward, Caroline, Klein, Hanns‐Georg, Liu, Wanguo, Nuytinck, Lieve, Peltonen, Leena, Alvarez Perez, Ana Beatriz, Rantamäki, Terhi, Junien, Claudine, and Boileau, Catherine

Published
1998

46. BRCA Share: A Collection of Clinical BRCA Gene Variants.

Author

Béroud C, Letovsky SI, Braastad CD, Caputo SM, Beaudoux O, Bignon YJ, Bressac-De Paillerets B, Bronner M, Buell CM, Collod-Béroud G, Coulet F, Derive N, Divincenzo C, Elzinga CD, Garrec C, Houdayer C, Karbassi I, Lizard S, Love A, Muller D, Nagan N, Nery CR, Rai G, Revillion F, Salgado D, Sévenet N, Sinilnikova O, Sobol H, Stoppa-Lyonnet D, Toulas C, Trautman E, Vaur D, Vilquin P, Weymouth KS, Willis A, Eisenberg M, and Strom CM

Subjects
Data Curation, Female, Genetic Predisposition to Disease, Humans, Mutation, BRCA1 Protein genetics, BRCA2 Protein genetics, Breast Neoplasms genetics, Databases, Factual economics, Ovarian Neoplasms genetics
Abstract

As next-generation sequencing increases access to human genetic variation, the challenge of determining clinical significance of variants becomes ever more acute. Germline variants in the BRCA1 and BRCA2 genes can confer substantial lifetime risk of breast and ovarian cancer. Assessment of variant pathogenicity is a vital part of clinical genetic testing for these genes. A database of clinical observations of BRCA variants is a critical resource in that process. This article describes BRCA Share™, a database created by a unique international alliance of academic centers and commercial testing laboratories. By integrating the content of the Universal Mutation Database generated by the French Unicancer Genetic Group with the testing results of two large commercial laboratories, Quest Diagnostics and Laboratory Corporation of America (LabCorp), BRCA Share™ has assembled one of the largest publicly accessible collections of BRCA variants currently available. Although access is available to academic researchers without charge, commercial participants in the project are required to pay a support fee and contribute their data. The fees fund the ongoing curation effort, as well as planned experiments to functionally characterize variants of uncertain significance. BRCA Share™ databases can therefore be considered as models of successful data sharing between private companies and the academic world., (© 2016 WILEY PERIODICALS, INC.)

Published
2016
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47. Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains.

Author

Khau Van Kien P, Baux D, Pallares-Ruiz N, Baudoin C, Plancke A, Chassaing N, Collignon P, Drouin-Garraud V, Hovnanian A, Martin-Coignard D, Collod-Béroud G, Béroud C, Roux AF, and Claustres M

Subjects
Adolescent, Adult, Aged, Child, Female, Fibrillin-1, Fibrillins, Glycine chemistry, Glycine genetics, Humans, Male, Marfan Syndrome diagnosis, Microfilament Proteins chemistry, Middle Aged, Models, Molecular, Pedigree, Sequence Analysis, DNA, Young Adult, Calcium metabolism, Epidermal Growth Factor chemistry, Epidermal Growth Factor genetics, Epidermal Growth Factor metabolism, Marfan Syndrome genetics, Microfilament Proteins genetics, Mutation, Missense
Abstract

In six index cases/families referred for Marfan syndrome (MFS) molecular diagnosis, we identified six novel mutations in the FBN1 gene: c.1753G>C (p.Gly585Arg), c.2456G>A (p.Gly819Glu), c.4981G>A (p.Gly1661Arg), c.5339G>A (p.Gly1780Glu), c.6418G>A (p.Gly2140Arg) and c.6419G>A (p.Gly2140Glu). These variants, predicted to result in Glycine substitutions are located at the third position of a 4 amino acids loop-region of calcium-binding Epidermal Growth Factor-like (cb-EGF) fibrillin-1 domains 5, 9, 24, 25 and 32. Familial segregation studies showing cosegregation with MFS manifestations or de novo inheritance in addition to in silico analyses (conservation, 3D modeling) suggest evidence for a crucial role of the respective Glycine positions. Extending these analyses to all Glycine residue at position 3 of this 4 residues loop in fibrillin-1 cb-EGF with the UMD predictor tool and alignment of 2038 available related sequences strongly support a steric strain that only allows Glycine or even Alanine residues for domain structure maintenance and for the fibrillin functions. Our data compared with those of the literature strongly suggest the existence of a cb-EGF domain subtype with implications for related diseases.

Published
2010
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48. Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.

Author

Collod-Béroud G, Le Bourdelles S, Ades L, Ala-Kokko L, Booms P, Boxer M, Child A, Comeglio P, De Paepe A, Hyland JC, Holman K, Kaitila I, Loeys B, Matyas G, Nuytinck L, Peltonen L, Rantamaki T, Robinson P, Steinmann B, Junien C, Béroud C, and Boileau C

Subjects
Animals, Cattle, Dogs, Fibrillin-1, Fibrillins, Humans, Marfan Syndrome genetics, Mice, Rats, Databases, Genetic trends, Microfilament Proteins genetics, Mutation, Polymorphism, Genetic
Abstract

Fibrillin is the major component of extracellular microfibrils. Mutations in the fibrillin gene on chromosome 15 (FBN1) were first described in the heritable connective disorder, Marfan syndrome (MFS). FBN1 has also been shown to harbor mutations related to a spectrum of conditions phenotypically related to MFS, called "type-1 fibrillinopathies." In 1995, in an effort to standardize the information regarding these mutations and to facilitate their mutational analysis and identification of structure/function and phenotype/genotype relationships, we created a human FBN1 mutation database, UMD-FBN1. This database gives access to a software package that provides specific routines and optimized multicriteria research and sorting tools. For each mutation, information is provided at the gene, protein, and clinical levels. This tool is now a worldwide reference and is frequently used by teams working in the field; more than 220,000 interrogations have been made to it since January 1998. The database has recently been modified to follow the guidelines on mutation databases of the HUGO Mutation Database Initiative (MDI) and the Human Genome Variation Society (HGVS), including their approved mutation nomenclature. The current update shows 559 entries, of which 421 are novel. UMD-FBN1 is accessible at www.umd.be/. We have also recently developed a FBN1 polymorphism database in order to facilitate diagnostics., (Copyright 2003 Wiley-Liss, Inc.)

Published
2003
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