Article
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
Human molecular genetics - 1 May 2014
Laquérriere Annie, Maluenda Jérome, Camus Adrien, Fontenas Laura, Dieterich Klaus, Nolent Flora, Zhou Jié, Monnier Nicole, Latour Philippe, Gentil Damien, Héron Delphine, Desguerres Isabelle, Landrieu Pierre, Beneteau Claire, Delaporte Benoit, Bellesme Céline, Baumann Clarisse, Capri Yline, Goldenberg Alice, Lyonnet Stanislas, Bonneau Dominique, Estournet Brigitte, Quijano-Roy Susana, Francannet Christine, Odent Sylvie, Saint-Frison Marie-Hélène, Sigaudy Sabine, Figarella-Branger Dominique, Gelot Antoinette, Mussini Jean-Marie, Lacroix Catherine, Drouin-Garraud Valerie, Malinge Marie-Claire, Attié-Bitach Tania, Bessieres Bettina, Bonniere Maryse, Encha-Razavi Ferechte, Beaufrère Anne-Marie, Khung-Savatovsky Suonary, Perez Marie José, Vasiljevic Alexandre, Mercier Sandra, Roume Joelle, Trestard Laetitia, Saugier-Veber Pascale, Cordier Marie-Pierre, Layet Valérie, Legendre Marine, Vigouroux-Castera Adeline, Lunardi Joel, Bayes Monica, Jouk Pierre S, Rigonnot Luc, Granier Michèle, Sternberg Damien, Warszawski Josiane, Gut Ivo, Gonzales Marie, Tawk Marcel, Melki Judith
Abstract excerpt
Non-syndromic arthrogryposis multiplex congenita (AMC) is characterized by multiple congenital contractures resulting from reduced fetal mobility. Genetic mapping and whole exome sequencing (WES) were performed in 31 multiplex and/or consanguineous undiagnosed AMC families. Although this approach identified known AMC genes, we here report pathogenic mutations in two new genes. Homozygous frameshift mutations in...
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