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

Shoubridge, C.Tarpey, P.Abidi, F.Ramsden, S.Rujirabanjerd, S.Murphy, J.Boyle, J.Shaw, M.Gardner, A.Proos, A.Puusepp, H.Raymond, F.Schwartz, C.Stevenson, R.Turner, G.Field, M.Walikonis, R.Harvey, R.Hackett, A.Futreal, P.et al.2010-11-182010-11-182010Nature Genetics, 2010; 42(6):486-4881061-40361546-1718http://hdl.handle.net/2440/61881The 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.en© 2010 Nature America, Inc. All rights reserved.Chromosomes, Human, XHumansGuanine Nucleotide Exchange FactorsPedigreeMutationFemaleMaleX-Linked Intellectual DisabilityMutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disabilityJournal article002009760510.1038/ng.5880002780815000102-s2.0-7795288507534277Shoubridge, C. [0000-0002-0157-3084]Shaw, M. [0000-0002-5060-190X]Gardner, A. [0009-0009-7321-1697]Gecz, J. [0000-0002-7884-6861]