THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.

ABSTRACT: Export of mRNA from the cell nucleus to the cytoplasm is essential for protein synthesis, a process vital to all living eukaryotic cells. mRNA export is highly conserved and ubiquitous. Mutations affecting mRNA and mRNA processing or export factors, which cause aberrant retention of mRNAs in the nucleus, are thus emerging as contributors to an important class of human genetic disorders. Here, we report that variants in THOC2, which encodes a subunit of the highly conserved TREX mRNA-export complex, cause syndromic intellectual disability (ID). Affected individuals presented with variable degrees of ID and commonly observed features included speech delay, elevated BMI, short stature, seizure disorders, gait disturbance, and tremors. X chromosome exome sequencing revealed four missense varia

SUBMITTER: Kumar R 

PROVIDER: S-EPMC4573269 | biostudies-literature | 2015 Aug

REPOSITORIES: biostudies-literature