Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.

ABSTRACT: Copy number variations associated with abnormal gene dosage have an important role in the genetic etiology of many neurodevelopmental disorders, including intellectual disability (ID) and autism. We hypothesize that the chromosome 2q23.1 region encompassing MBD5 is a dosage-dependent region, wherein deletion or duplication results in altered gene dosage. We previously established the 2q23.1 microdeletion syndrome and report herein 23 individuals with 2q23.1 duplications, thus establishing a complementary duplication syndrome. The observed phenotype includes ID, language impairments, infantile hypotonia and gross motor delay, behavioral problems, autistic features, dysmorphic facial features (pinnae anomalies, arched eyebrows, prominent nose, small chin, thin upper lip), and minor digital a

SUBMITTER: Mullegama SV 

PROVIDER: S-EPMC3865402 | biostudies-literature | 2014 Jan

REPOSITORIES: biostudies-literature