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

2010; Nature Portfolio; Volume: 42; Issue: 6 Linguagem: Inglês

10.1038/ng.588

1546-1718

Cheryl Shoubridge, Patrick Tarpey, Fatima Abidi, Sarah Ramsden, Sinitdhorn Rujirabanjerd, Jessica A. Murphy, Jackie Boyle, Marie Shaw, Alison Gardner, Anné Proos, Helen Puusepp, F. Lucy Raymond, Charles E. Schwartz, Roger E. Stevenson, G Turner, Michael Field, Randall S. Walikonis, Victoria L. Harvey, Anna Hackett, P. Andrew Futreal, Michael R. Stratton, Jozef Gécz,

Calcium signaling and nucleotide metabolism

Cheryl Shoubridge and Jozef Gecz and colleagues report the identification of mutations in IQSEC2, a guanine nucleotide exchange factor for ARF GTPases, in individuals with non-syndromic intellectual disability. 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.