Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
Annie LaquerriereDana JaberEmanuela AbiusiJérome MaluendaDan MejlachowiczAlexandre VivantiKlaus DieterichRadka StoevaLoic QuevarecFlora NolentValerie BiancalanaPhilippe LatourDamien SternbergYline CapriAlain VerloesBettina BessieresLaurence LoeuilletTania Attie-BitachJelena MartinovicSophie BlessonFlorence PetitClaire BeneteauSandra WhalenFlorent MarguetJerome BouligandDelphine HéronGéraldine ViotJeanne AmielDaniel AmramCéline BellesmeMartine BucourtLaurence Olivier-FaivrePierre-Simon JoukSuonavy KhungSabine SigaudyAnne-Lise DelezoideAlice GoldenbergMarie-Line JacquemontLaetitia LambertValérie LayetStanislas LyonnetArnold MunnichLionel Van MaldergemJuliette PiardFabien GuimiotPierre LandrieuPascaline LetardFanny PelluardLaurence PerrinMarie-Hélène Saint-FrisonHaluk TopalogluLaetitia TrestardCatherine Vincent-DelormeHelge AmthorChristine BarneriasAlexandra BenachiEric BiethElise Brischoux-BoucherValerie Cormier-DaireAndrée Delahaye-DuriezIsabelle DesguerreBruno EymardChristine FrancannetSarah GrottoDidier LacombeFanny LaffargueMarine LegendreDominique Martin-CoignardAndré MégarbanéSandra MercierMathilde NizonLuc RigonnotFabienne PrieurChloé QuélinHanitra Ranjatoelina-RandrianaivoNicoletta RestaAnnick ToutainHelene VerhelstMarie VincentEstelle ColinCatherine Fallet-BiancoMichèle GranierRomulus GrigorescuJulien SaadaMarie GonzalesAnne Guiochon-MantelJean-Louis BessereauMarcel TawkIvo GutCyril GitiauxJudith MelkiPublished in: Journal of medical genetics (2021)
New genes recently identified in AMC represent 21% of causing genes in our cohort. A high proportion of de novo variants were observed indicating that this mechanism plays a prominent part in this developmental disease. Our data showed the added value of WES when compared with TES due to the larger clinical spectrum of some disease genes than initially described and the identification of novel genes.