Submicroscopic Deletion in 7q31 Encompassing CADPS2 and TSPAN12 in a Child With Autism Spectrum Disorder and PHPV

被引：21

作者：

Okamoto, Nobuhiko ^{[1
,2
]}

Hatsukawa, Yoshikazu ^{[3
]}

Shimojima, Keiko ^{[4
]}

Yamamoto, Toshiyuki ^{[4
]}

机构：

[1] Osaka Med Ctr, Dept Med Genet, Izumi Ku, Osaka 5941101, Japan

[2] Res Inst Maternal & Child Hlth, Izumi Ku, Osaka 5941101, Japan

[3] Osaka Med Ctr, Dept Ophthalmol, Osaka 5941101, Japan

[4] Tokyo Womens Med Univ, Inst Integrated Med Sci, Tokyo, Japan

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2011年 / 155A卷 / 07期

关键词：

CADPS2; TSPAN12; autism; PHPV; CGH; FAMILIAL EXUDATIVE VITREORETINOPATHY; RETINAL VASCULAR DEVELOPMENT; CHROMOSOME; 7Q; CADPS2-KNOCKOUT MICE; MENTAL-RETARDATION; MUTATIONS; PATIENT; LINKAGE; GENES; ASSOCIATION;

D O I：

10.1002/ajmg.a.34028

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We performed array comparative genomic hybridization utilizing a whole genome oligonucleotide microarray in a patient with the autism spectrum disorders (ASDs) and persistent hyperplastic primary vitreous (PHPV). Submicroscopic deletions in 7q31 encompassing CADPS2 (Ca(2+)-dependent activator protein for secretion 2) and TSPAN12 (one of the members of the tetraspanin superfamily) were confirmed. The CADPS2 plays important roles in the release of neurotrophin-3 and brain-derived neurotrophic factor. Mutations in TSPAN12 are a relatively frequent cause of familial exudative vitreoretinopathy. We speculate that haploinsufficiency of CADPS2 and TSPAN12 contributes to ASDs and PHPV, respectively. (C) 2011 Wiley-Liss, Inc.

引用

页码：1568 / 1573

页数：6