A novel MED12 mutation associated with non-specific X-linked intellectual disability.

ABSTRACT: The mediator complex subunit 12 gene (MED12) is responsible for an X-linked recessive intellectual disability syndrome that is characterized by dysmorphic features such as a long, narrow face and blepharophimosis, which is now recognized as an MED12-related syndrome. We identified a novel non-synonymous single-nucleotide variant, p.Ile1023Val, in a male patient with non-specific X-linked intellectual disability (XLID). Our results, together with the existence of similar reports, suggest a relationship between MED12 variants and XLID.

SUBMITTER: Yamamoto T 

PROVIDER: S-EPMC4785543 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature