Toshiyuki Yamamoto
   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