De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.

ABSTRACT: Many genetic causes of developmental delay and/or intellectual disability (DD/ID) are extremely rare, and robust discovery of these requires both large-scale DNA sequencing and data sharing. Here we describe a GeneMatcher collaboration which led to a cohort of 13 affected individuals harboring protein-altering variants, 11 of which are de novo, in MED13; the only inherited variant was transmitted to an affected child from an affected mother. All patients had intellectual disability and/or developmental delays, including speech delays or disorders. Other features that were reported in two or more patients include autism spectrum disorder, attention deficit hyperactivity disorder, optic nerve abnormalities, Duane anomaly, hypotonia, mild congenital heart abnormalities, and dysmorphisms. Six

SUBMITTER: Snijders Blok L 

PROVIDER: S-EPMC5973976 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature