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

C Shoubridge; P S Tarpey; F Abidi; S L Ramsden; S Rujirabanjerd; J A Murphy; J Boyle; M Shaw; A Gardner; A Proos; H Puusepp; F L Raymond; C E Schwartz; R E Stevenson; G Turner; M Field; R S Walikonis; Robert J Harvey; A Hackett; P A Futreal; M R Stratton; J Gécz

doi:10.1038/ng.588

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

Journal article

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

C Shoubridge, P S Tarpey, F Abidi, S L Ramsden, S Rujirabanjerd, J A Murphy, J Boyle, M Shaw, A Gardner, A Proos, …

Nature Genetics, Vol.42(6), pp.486-488

2010

DOI: https://doi.org/10.1038/ng.588

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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. © 2010 Nature America, Inc. All rights reserved.

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Title: Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability
Authors: C Shoubridge (Author) - SA Pathology
P S Tarpey (Author) - Wellcome Trust Sanger Institute, United Kingdom
F Abidi (Author) - J.C. Self Research Institute, United States
S L Ramsden (Author) - University College London, United Kingdom
S Rujirabanjerd (Author) - SA Pathology
J A Murphy (Author) - University of Connecticut, United States
J Boyle (Author) - Hunter Genetics
M Shaw (Author) - SA Pathology
A Gardner (Author) - SA Pathology
A Proos (Author) - Royal North Shore Hospital
H Puusepp (Author) - Royal North Shore Hospital
F L Raymond (Author) - Cambridge Institute of Medical Research, United Kingdom
C E Schwartz (Author) - J.C. Self Research Institute, United States
R E Stevenson (Author) - J.C. Self Research Institute, United States
G Turner (Author) - Hunter Genetics
M Field (Author) - Hunter Genetics
R S Walikonis (Author) - University of Connecticut, United States
Robert J Harvey (Author) - University College London, United Kingdom
A Hackett (Author) - Hunter Genetics
P A Futreal (Author) - Wellcome Trust Sanger Institute, United Kingdom
M R Stratton (Author) - Wellcome Trust Sanger Institute, United Kingdom
J Gécz (Author) - SA Pathology
Publication details: Nature Genetics, Vol.42(6), pp.486-488
Publisher: Nature Publishing Group
Date published: 2010
DOI: 10.1038/ng.588
ISSN: 1061-4036
Copyright note: Copyright © 2010 Nature Publishing Group. The accepted version is reproduced here in accordance with the publishers copyright policy. The definitive version is available from http://www.nature.com/ng/
Organisation Unit: School of Health; University of the Sunshine Coast, Queensland; School of Health and Sport Sciences - Legacy; Centre for Bioinnovation; School of Health and Behavioural Sciences - Legacy
Language: English
Record Identifier: 99450595302621
Output Type: Journal article

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Collaboration types: Domestic collaboration; International collaboration
Web Of Science research areas: Genetics & Heredity