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.
Cheryl Shoubridge  1 ,  Patrick S Tarpey ,  Fatima Abidi ,  Sarah L Ramsden ,  Sinitdhorn Rujirabanjerd ,  Jessica A Murphy ,  Jackie Boyle ,  Marie Shaw ,  Alison Gardner ,  Anne Proos ,  Helen Puusepp ,  F Lucy Raymond ,  Charles E Schwartz ,  Roger E Stevenson ,  Gill Turner ,  Michael Field ,  Randall S Walikonis ,  Robert J Harvey ,  Anna Hackett ,  P Andrew Futreal ,  Michael R Stratton ,  Jozef Gécz
Affiliations
  • 1. Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia. [email protected]
PMID: 20473311 DOI: 10.1038/ng.588
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.