2. Academic Validation
  3. Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

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

Affiliation

  • 1 Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia. cheryl.shoubridge@adelaide.edu.au
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.

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