title: Submicroscopic deletion in 7q31 encompassing CADPS2 and TSPAN12 in a child with autism spectrum disorder and PHPV.
abstract: 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.
authors.affiliation: Department of Medical Genetics, Osaka Medical Center, Research Institute for Maternal and Child Health, Japan. okamoto@osaka.email.ne.jp
authors.forename: Nobuhiko
authors.initials: N
authors.lastname: Okamoto
authors.forename: Yoshikazu
authors.initials: Y
authors.lastname: Hatsukawa
authors.forename: Keiko
authors.initials: K
authors.lastname: Shimojima
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Yamamoto
mesh_terms: D002135:Calcium-Binding Proteins / Q000235:genetics*; D002659:Child Development Disorders, Pervasive / Q000150:complications / Q000235:genetics; D002675:Child, Preschool; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D056915:DNA Copy Number Variations; D057895:Haploinsufficiency / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D054514:Persistent Hyperplastic Primary Vitreous / Q000150:complications / Q000235:genetics; D059470:Tetraspanins; D033921:Vesicular Transport Proteins / Q000235:genetics*
chemical_list: C479428:CADPS2 protein, human; D002135:Calcium-Binding Proteins; D008565:Membrane Proteins; C545100:TSPAN12 protein, human; D059470:Tetraspanins; D033921:Vesicular Transport Proteins