Intellectual disability associated with a homozygous missense mutation in THOC6

Conclusion:
Our findings associate a missense mutation in THOC6 with intellectual disability, suggesting the THO/TREX complex plays an important role in neurodevelopment.

Source: Orphanet Journal of Rare Diseases - April 26, 2013 Category: Internal Medicine Authors: Chandree BeaulieuLijia HuangA InnesMarie-Andree AkimenkoErik PuffenbergerCharles SchwartzPaul JerryCarole OberRobert HegeleD McLeodJeremy SchwartzentruberJacek MajewskiDennis BulmanJillian ParboosinghKym Boycott Source Type: research