Article
Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.
Clinical genetics - 1 Jan 2017
Amos J S, Huang L, Thevenon J, Kariminedjad A, Beaulieu C L, Masurel-Paulet A, Najmabadi H, Fattahi Z, Beheshtian M, Tonekaboni S H, Tang S, Helbig K L, Alcaraz W, Rivière J-B, Faivre L, Innes A M, Lebel R R, Boycott K M
Abstract excerpt
THOC6 is a part of the THO complex, which is involved in coordinating mRNA processing with export. The THO complex interacts with additional components to form the larger TREX complex (transcription export complex). Previously, a homozygous missense mutation in THOC6 in the Hutterite population was reported in association with syndromic intellectual disability. Using exome sequencing, we identified three...
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