De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.

D L PollaE J BhojJ B G M VerheijJ S Klein Wassink-RuiterA ReisC DeshpandeA GregorK Hill-KarfeA T Vulto-van SilfhoutR PfundtE M H F BongersH HakonarsonS BerlandG GradekS BankaK ChandlerL GompertzS C HuffelsC T R M StumpelR WennekesA P A StegmannW ReardonE K S M LeendersB B A de VriesD LiE ZackaiN RaggeS A LynchS CuddapahH van BokhovenC ZweierArjan Pm de Brouwer

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

We establish de novo truncating variants in MED12 as causative for a distinct NDD and de novo missense variants as causative for a severe, less specific NDD in females.

Keyphrases

copy number
intellectual disability
early onset
autism spectrum disorder
drug induced