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

Cheryl Shoubridge, 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 FutrealMichael R. Stratton, Jozef Gécz

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122 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)486-488
Number of pages3
JournalNature Genetics
Issue number6
Publication statusPublished or Issued - Jun 2010
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

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