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Type: Journal article
Title: Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability
Author: 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.
Citation: Nature Genetics, 2010; 42(6):486-488
Publisher: Nature Publishing Group
Issue Date: 2010
ISSN: 1061-4036
Statement of
Cheryl Shoubridge... Jozef Gécz... et al.
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.
Keywords: Chromosomes, Human, X
Mental Retardation, X-Linked
Guanine Nucleotide Exchange Factors
Rights: © 2010 Nature America, Inc. All rights reserved.
DOI: 10.1038/ng.588
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Paediatrics publications

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