シモジマ ケイコ   Shimojima Keiko
  下島 圭子
   所属   医学部 医学科(東京女子医科大学病院)
   職種   助教
論文種別 原著
言語種別 英語
査読の有無 査読なし
表題 Submicroscopic deletion in 7q31 encompassing CADPS2 and TSPAN12 in a child with autism spectrum disorder and PHPV.
掲載誌名 正式名:American Journal of Medical Genetics
巻・号・頁 155A(7),pp.1568-1573
著者・共著者 Nobuhiko Okamoto, Yoshikazu Hatsukawa, Keiko Shimojima, Toshiyuki Yamamoto
発行年月 2011/07
概要 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 (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