Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features.
Marie BidartMichèle El AtifiSarra MiladiJohn RenduVéronique SatrePierre F RayCaroline BossonFrançoise DevillardDaphne LehalleValérie MalanJeanne AmielMaria Antonietta MencarelliMargherita BaldassarriAlessandra RenieriJill Clayton-SmithGaëlle VievilleJulien ThevenonFlorence AmblardFrançois BergerPierre-Simon JoukCharles CouttonPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)
Our study reports a new microduplication syndrome involving the ARID1A gene. This work is the first step in clarifying the pathophysiological mechanism that links changes in the gene dosage of ARID1A with intellectual disability and microcephaly.Genet Med advance online publication 01 December 2016.