Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

Nat Genet. 2010 Jun;42(6):486-8. doi: 10.1038/ng.588. Epub 2010 May 16.

Abstract

The first family identified as having a nonsyndromic intellectual disability was mapped in 1988. Here we show that a mutation of IQSEC2, encoding a guanine nucleotide exchange factor for the ADP-ribosylation factor family of small GTPases, caused this disorder. In addition to MRX1, IQSEC2 mutations were identified in three other families with X-linked intellectual disability. This discovery was made possible by systematic and unbiased X chromosome exome resequencing.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human, X
  • Female
  • Guanine Nucleotide Exchange Factors / genetics*
  • Humans
  • Male
  • Mental Retardation, X-Linked / genetics*
  • Mutation*
  • Pedigree

Substances

  • Guanine Nucleotide Exchange Factors
  • IQSEC2 protein, human