Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins.
We report here the identification and characterization of a novel gene (AUTS2) that spans the 7q11.2 breakpoint in a monozygotic twin pair concordant for autism and a t(7;20) (q11.2; p11.2) translocation. AUTS2 is 1.2 Mb and has 19 exons. The predicted protein is 1295 amino acids and does not correspond to any known protein. DNA sequence analysis of autism subjects and controls revealed 22 biallelic polymorphic sites. For all sites, both alleles were observed in both cases and controls. Thus no autism-specific mutation was observed. Association analysis with two exonic polymorphic sites and linkage analysis of four dinucleotide repeat markers, two within and two flanking AUTS2, was negative. Thus, although it is unlikely that AUTS2 is an autism susceptibility gene for idiopathic autism, it may be the gene responsible for the disorder in the twins studied here.
Sultana
Razia
R
Department of Psychiatry & Behavioral Sciences, University of Washington, Seattle, Washington 98195, USA.
Yu
Chang-En
CE
Yu
Jun
J
Munson
Jeffery
J
Chen
Donghui
D
Hua
Wenhui
W
Estes
Annette
A
Cortes
Fanny
F
de la Barra
Flora
F
Yu
Dongmei
D
Haider
Syed T
ST
Trask
Barbara J
BJ
Green
Eric D
ED
Raskind
Wendy H
WH
Disteche
Christine M
CM
Wijsman
Ellen
E
Dawson
Geraldine
G
Storm
Daniel R
DR
Schellenberg
Gerard D
GD
Villacres
Enrique C
EC
D000595:Amino Acid Sequence; D000818:Animals; D001321:Autistic Disorder / Q000209:etiology / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D051379:Mice; D008969:Molecular Sequence Data; D014178:Translocation, Genetic; D014430:Twins, Monozygotic / Q000235:genetics*