title: Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.
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.
authors.affiliation: Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia. cheryl.shoubridge@adelaide.edu.au
authors.forename: Cheryl
authors.initials: C
authors.lastname: Shoubridge
authors.forename: Patrick S
authors.initials: PS
authors.lastname: Tarpey
authors.forename: Fatima
authors.initials: F
authors.lastname: Abidi
authors.forename: Sarah L
authors.initials: SL
authors.lastname: Ramsden
authors.forename: Sinitdhorn
authors.initials: S
authors.lastname: Rujirabanjerd
authors.forename: Jessica A
authors.initials: JA
authors.lastname: Murphy
authors.forename: Jackie
authors.initials: J
authors.lastname: Boyle
authors.forename: Marie
authors.initials: M
authors.lastname: Shaw
authors.forename: Alison
authors.initials: A
authors.lastname: Gardner
authors.forename: Anne
authors.initials: A
authors.lastname: Proos
authors.forename: Helen
authors.initials: H
authors.lastname: Puusepp
authors.forename: F Lucy
authors.initials: FL
authors.lastname: Raymond
authors.forename: Charles E
authors.initials: CE
authors.lastname: Schwartz
authors.forename: Roger E
authors.initials: RE
authors.lastname: Stevenson
authors.forename: Gill
authors.initials: G
authors.lastname: Turner
authors.forename: Michael
authors.initials: M
authors.lastname: Field
authors.forename: Randall S
authors.initials: RS
authors.lastname: Walikonis
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Harvey
authors.forename: Anna
authors.initials: A
authors.lastname: Hackett
authors.forename: P Andrew
authors.initials: PA
authors.lastname: Futreal
authors.forename: Michael R
authors.initials: MR
authors.lastname: Stratton
authors.forename: Jozef
authors.initials: J
authors.lastname: Gécz
mesh_terms: D041321:Chromosomes, Human, X; D005260:Female; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D006801:Humans; D008297:Male; D038901:X-Linked Intellectual Disability / Q000235:genetics*; D009154:Mutation; D010375:Pedigree
chemical_list: D020662:Guanine Nucleotide Exchange Factors; C550083:IQSEC2 protein, human
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