Journal
NATURE GENETICS
Volume 42, Issue 6, Pages 486-488Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.588
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Funding
- Australian National Health and Medical Research Council
- SMILE Foundation
- Women's and Children's Hospital Foundation
- US National Institutes of Health [HD26202]
- South Carolina Department of Disabilities and Special Needs (SCDDSN)
- Medical Research Council
- Action Medical Research
- Wellcome Trust [077012/Z/05/Z]
- EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH &HUMAN DEVELOPMENT [R01HD026202] Funding Source: NIH RePORTER
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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.
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