Intellectual disability associated with a homozygous missense mutation in THOC6.

ABSTRACT:

Background

We recently described a novel autosomal recessive neurodevelopmental disorder with intellectual disability in four patients from two related Hutterite families. Identity-by-descent mapping localized the gene to a 5.1 Mb region at chromosome 16p13.3 containing more than 170 known or predicted genes. The objective of this study was to identify the causative gene for this rare disorder.

Methods and results

Candidate gene sequencing followed by exome sequencing identified a homozygous missense mutation p.Gly46Arg, in THOC6. No other potentially causative coding variants were present within the critical region on chromosome 16. THOC6 is a member of the THO/TREX complex which is involved in coordinating mRNA processing with mRNA export from the nucleus. In situ hybridiz

SUBMITTER: Beaulieu CL 

PROVIDER: S-EPMC3644499 | biostudies-literature | 2013 Apr

REPOSITORIES: biostudies-literature