YAMAMOTO Toshiyuki    Department   School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine    Position   Professor
Article types	Original article
Language	English
Peer review	Non peer reviewed
Title	Submicroscopic deletion in 7q31 encompassing CADPS2 and TSPAN12 in a child with autism spectrum disorder and PHPV.
Journal	Formal name：American Journal of Medical Genetics
Volume, Issue, Page	155A(7),pp.1568-1573
Author and coauthor	Nobuhiko Okamoto, Yoshikazu Hatsukawa, Keiko Shimojima, Toshiyuki Yamamoto
Publication date	2011/07
Summary	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 (Ca2+-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.
DOI	10.1002