Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic 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.
Shoubridge
Cheryl
C
Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia. cheryl.shoubridge@adelaide.edu.au
Tarpey
Patrick S
PS
Abidi
Fatima
F
Ramsden
Sarah L
SL
Rujirabanjerd
Sinitdhorn
S
Murphy
Jessica A
JA
Boyle
Jackie
J
Shaw
Marie
M
Gardner
Alison
A
Proos
Anne
A
Puusepp
Helen
H
Raymond
F Lucy
FL
Schwartz
Charles E
CE
Stevenson
Roger E
RE
Turner
Gill
G
Field
Michael
M
Walikonis
Randall S
RS
Harvey
Robert J
RJ
Hackett
Anna
A
Futreal
P Andrew
PA
Stratton
Michael R
MR
Gécz
Jozef
J
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
D020662:Guanine Nucleotide Exchange Factors; C550083:IQSEC2 protein, human
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