Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.

ABSTRACT: A chromosomal balanced translocation disrupting the MED13L (Mediator complex subunit13-like) gene, encoding a subunit of the Mediator complex, was previously associated with transposition of the great arteries (TGA) and intellectual disability (ID), and led to the identification of missense mutations in three patients with isolated TGA. Recently, a homozygous missense mutation in MED13L was found in two siblings with non-syndromic ID from a consanguineous family. Here, we describe for the first time, three patients with copy number changes affecting MED13L and delineate a recognizable MED13L haploinsufficiency syndrome. Using high resolution molecular karyotyping, we identified two intragenic de novo frameshift deletions, likely resulting in haploinsufficiency, in two patients with a simil

SUBMITTER: Asadollahi R 

PROVIDER: S-EPMC3778355 | biostudies-literature | 2013 Oct

REPOSITORIES: biostudies-literature