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Otopalatodigital sp...
Otopalatodigital spectrum disorders : refinement of the phenotypic and mutational spectrum
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- Moutton, Sebastien (författare)
- Hop Pellegrin, CHU Bordeaux, Dept Med Genet, Ctr Reference Anomalies Dev Embryonnaire, Bordeaux, France.;Univ Bordeaux, INSERM, U1211, Lab Malad Rares Genet & Metab, Bordeaux, France.
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- Fergelot, Patricia (författare)
- Hop Pellegrin, CHU Bordeaux, Dept Med Genet, Ctr Reference Anomalies Dev Embryonnaire, Bordeaux, France.;Univ Bordeaux, INSERM, U1211, Lab Malad Rares Genet & Metab, Bordeaux, France.;Univ Bordeaux, Ctr Genom Fonct Bordeaux, Plateforme Genome Transcriptome, Bordeaux, France.
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- Naudion, Sophie (författare)
- Hop Pellegrin, CHU Bordeaux, Dept Med Genet, Ctr Reference Anomalies Dev Embryonnaire, Bordeaux, France.
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visa fler...
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- Cordier, Marie-Pierre (författare)
- Hop Femme Mere Enfant, CHU Lyon, Dept Med Genet, Bron, France.
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- Sole, Guilhem (författare)
- Univ Bordeaux, INSERM, U1211, Lab Malad Rares Genet & Metab, Bordeaux, France.;Hop Pellegrin, CHU Bordeaux, Dept Neurol, Federat Neurosci Clin, Bordeaux, France.
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- Guerineau, Elodie (författare)
- Univ Bordeaux, INSERM, U1211, Lab Malad Rares Genet & Metab, Bordeaux, France.
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- Hubert, Christophe (författare)
- Univ Bordeaux, Ctr Genom Fonct Bordeaux, Plateforme Genome Transcriptome, Bordeaux, France.
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- Rooryck, Caroline (författare)
- Hop Pellegrin, CHU Bordeaux, Dept Med Genet, Ctr Reference Anomalies Dev Embryonnaire, Bordeaux, France.;Univ Bordeaux, INSERM, U1211, Lab Malad Rares Genet & Metab, Bordeaux, France.
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- Vuillaume, Marie-Laure (författare)
- Hop Pellegrin, CHU Bordeaux, Dept Med Genet, Ctr Reference Anomalies Dev Embryonnaire, Bordeaux, France.;Univ Bordeaux, INSERM, U1211, Lab Malad Rares Genet & Metab, Bordeaux, France.
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- Houcinat, Nada (författare)
- Hop Pellegrin, CHU Bordeaux, Dept Med Genet, Ctr Reference Anomalies Dev Embryonnaire, Bordeaux, France.;Univ Bordeaux, INSERM, U1211, Lab Malad Rares Genet & Metab, Bordeaux, France.
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- Deforges, Julie (författare)
- Hop Pellegrin, CHU Bordeaux, Dept Med Genet, Ctr Reference Anomalies Dev Embryonnaire, Bordeaux, France.
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- Bouron, Julie (författare)
- Hop Pellegrin, CHU Bordeaux, Dept Med Genet, Ctr Reference Anomalies Dev Embryonnaire, Bordeaux, France.
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- Deves, Sylvie (författare)
- Hop Pellegrin, CHU Bordeaux, Dept Med Genet, Ctr Reference Anomalies Dev Embryonnaire, Bordeaux, France.
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- Le Merrer, Martine (författare)
- Univ Paris 05, Sorbonne Paris Cite, Hop Necker Enfants Malad, Dept Med Genet,Inst Imagine,INSERM,U781, Paris, France.
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- David, Albert (författare)
- Hop Mere Enfant, CHU Nantes, Dept Med Genet, Nantes, France.
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- Genevieve, David (författare)
- Univ Montpellier, Hop Arnaud Villeneuve, CHRU Montpellier, Dept Med Genet,INSERM,U1183,CLAD Sud Languedoc Ro, Montpellier, France.
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- Giuliano, Fabienne (författare)
- Hop Archet 2, CHU Nice, Dept Med Genet, Nice, France.
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- Journel, Hubert (författare)
- Ctr Hosp Bretagne Atlantique, Dept Med Genet & Oncogenet, Vannes, France.
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- Megarbane, Andre (författare)
- Arabian Gulf Univ, Dept Med Genet, Al Jawhara Ctr, Manama, Bahrain.
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- Faivre, Laurence (författare)
- Hop Enfants, CHU Dijon, Dept Med Genet, Ctr Reference Anomalies Dev & Syndromes Malformat, Dijon, France.
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- Chassaing, Nicolas (författare)
- Univ Toulouse, Dept Med Genet, CHU Toulouse, Hop Purpan,UDEAR,Inserm,UPS,CNRS, Toulouse, France.
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- Francannet, Christine (författare)
- Hop Estaing, CHU Clermont Ferrand, Dept Med Genet, Clermont Ferrand, France.
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- Sarrazin, Elisabeth (författare)
- Hop Pierre Zobda Quitman, CHU Ft France, Dept Neuropediatr, Ctr Reference Caribeen Malad Rares Neurol & Neuro, Martinique, France.
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- Stattin, Eva-Lena (författare)
- Uppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab
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- Vigneron, Jacqueline (författare)
- CHU Nancy, Maternite Regionale Adolphe Pinard, Dept Med Genet, Nancy, France.
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- Leclair, Danielle (författare)
- CHU Raymond Poincare, Dept Phys Med & Rehabil, Ctr Reference Malad Neuromusculaires, Garches, France.
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- Abadie, Caroline (författare)
- Univ Montpellier, Hop Arnaud Villeneuve, CHRU Montpellier, Dept Med Genet,INSERM,U1183,CLAD Sud Languedoc Ro, Montpellier, France.
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- Sarda, Pierre (författare)
- Univ Montpellier, Hop Arnaud Villeneuve, CHRU Montpellier, Dept Med Genet,INSERM,U1183,CLAD Sud Languedoc Ro, Montpellier, France.
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- Baumann, Clarisse (författare)
- Hop Robert Debre, AP HP, Dept Med Genet, CLAD Ile France, Paris, France.
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- Delrue, Marie-Ange (författare)
- Hop Pellegrin, CHU Bordeaux, Dept Med Genet, Ctr Reference Anomalies Dev Embryonnaire, Bordeaux, France.
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- Arveiler, Benoit (författare)
- Hop Pellegrin, CHU Bordeaux, Dept Med Genet, Ctr Reference Anomalies Dev Embryonnaire, Bordeaux, France.;Univ Bordeaux, INSERM, U1211, Lab Malad Rares Genet & Metab, Bordeaux, France.
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- Lacombe, Didier (författare)
- Hop Pellegrin, CHU Bordeaux, Dept Med Genet, Ctr Reference Anomalies Dev Embryonnaire, Bordeaux, France.;Univ Bordeaux, INSERM, U1211, Lab Malad Rares Genet & Metab, Bordeaux, France.
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- Goizet, Cyril (författare)
- Hop Pellegrin, CHU Bordeaux, Dept Med Genet, Ctr Reference Anomalies Dev Embryonnaire, Bordeaux, France.;Univ Bordeaux, INSERM, U1211, Lab Malad Rares Genet & Metab, Bordeaux, France.
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- Coupry, Isabelle (författare)
- Univ Bordeaux, INSERM, U1211, Lab Malad Rares Genet & Metab, Bordeaux, France.
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visa färre...
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Hop Pellegrin, CHU Bordeaux, Dept Med Genet, Ctr Reference Anomalies Dev Embryonnaire, Bordeaux, France;Univ Bordeaux, INSERM, U1211, Lab Malad Rares Genet & Metab, Bordeaux, France. Hop Pellegrin, CHU Bordeaux, Dept Med Genet, Ctr Reference Anomalies Dev Embryonnaire, Bordeaux, France.;Univ Bordeaux, INSERM, U1211, Lab Malad Rares Genet & Metab, Bordeaux, France.;Univ Bordeaux, Ctr Genom Fonct Bordeaux, Plateforme Genome Transcriptome, Bordeaux, France. (creator_code:org_t)
- 2016-05-19
- 2016
- Engelska.
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Ingår i: Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1434-5161 .- 1435-232X. ; 61:8, s. 693-699
- Relaterad länk:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- Otopalatodigital spectrum disorders (OPDSD) constitute a group of dominant X-linked osteochondrodysplasias including four syndromes: otopalatodigital syndromes type 1 and type 2 (OPD1 and OPD2), frontometaphyseal dysplasia, and Melnick-Needles syndrome. These syndromes variably associate specific facial and extremities features, hearing loss, cleft palate, skeletal dysplasia and several malformations, and show important clinical overlap over the different entities. FLNA gain-of-function mutations were identified in these conditions. FLNA encodes filamin A, a scaffolding actin-binding protein. Here, we report phenotypic descriptions and molecular results of FLNA analysis in a large series of 27 probands hypothesized to be affected by OPDSD. We identified 11 different missense mutations in 15 unrelated probands (n=15/27, 56%), of which seven were novel, including one of unknown significance. Segregation analyses within families made possible investigating 20 additional relatives carrying a mutation. This series allows refining the phenotypic and mutational spectrum of FLNA mutations causing OPDSD, and providing suggestions to avoid the overdiagnosis of OPD1.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
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Moutton, Sebasti ...
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Fergelot, Patric ...
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Naudion, Sophie
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Cordier, Marie-P ...
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Sole, Guilhem
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Guerineau, Elodi ...
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visa fler...
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Hubert, Christop ...
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Rooryck, Carolin ...
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Vuillaume, Marie ...
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Houcinat, Nada
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Deforges, Julie
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Bouron, Julie
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Deves, Sylvie
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Le Merrer, Marti ...
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David, Albert
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Genevieve, David
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Giuliano, Fabien ...
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Journel, Hubert
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Megarbane, Andre
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Faivre, Laurence
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Chassaing, Nicol ...
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Francannet, Chri ...
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Sarrazin, Elisab ...
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Stattin, Eva-Len ...
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Vigneron, Jacque ...
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Leclair, Daniell ...
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Abadie, Caroline
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Sarda, Pierre
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Baumann, Clariss ...
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Delrue, Marie-An ...
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Arveiler, Benoit
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Lacombe, Didier
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Goizet, Cyril
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Coupry, Isabelle
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Uppsala universitet