Adelaide Research & Scholarship
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https://hdl.handle.net/2440/61881
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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 1546-1718 |
| Statement of Responsibility: | 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 Humans Mental Retardation, X-Linked Guanine Nucleotide Exchange Factors Pedigree Mutation Female Male |
| Rights: | © 2010 Nature America, Inc. All rights reserved. |
| DOI: | 10.1038/ng.588 |
| Published version: | http://dx.doi.org/10.1038/ng.588 |
| Appears in Collections: | Aurora harvest Paediatrics publications |
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