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

Autor:	Roger E. Stevenson, Marie Shaw, Michael R. Stratton, Anne Proos, Gill Turner, Jozef Gecz, P. Andrew Futreal, Robert J. Harvey, Michael Field, Alison Gardner, Charles E. Schwartz, Randall S. Walikonis, Jackie Boyle, Cheryl Shoubridge, Sarah L. Ramsden, Fatima Abidi, Patrick S. Tarpey, Anna Hackett, Helen Puusepp, Sinitdhorn Rujirabanjerd, F. Lucy Raymond, Jessica A. Murphy
Rok vydání:	2010
Předmět:	Male Genetics Chromosomes Human X Mutation GTPase Biology medicine.disease medicine.disease_cause Article Pedigree Intellectual disability Mental Retardation X-Linked medicine Guanine Nucleotide Exchange Factors Humans Female Guanine nucleotide exchange factor Exome Gene X chromosome
Zdroj:	Nature Genetics. 42:486-488
ISSN:	1546-1718 1061-4036
DOI:	10.1038/ng.588
Popis:	Cheryl Shoubridge and Jozef Gecz and colleagues report the identification of mutations in IQSEC2, a guanine nucleotide exchange factor for ARF GTPases, in individuals with non-syndromic intellectual disability. 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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d051551c3f4612b37f34fda6442df410 https://doi.org/10.1038/ng.588 Zobrazit plný text záznamu Plný text ve formátu PDF