Submicroscopic deletion in 7q31 encompassing CADPS2 and TSPAN12 in a child with autism spectrum disorder and PHPV

Am J Med Genet A. 2011 Jul;155A(7):1568-73. doi: 10.1002/ajmg.a.34028. Epub 2011 May 27.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Calcium-Binding Proteins / genetics*
  • Child Development Disorders, Pervasive* / complications
  • Child Development Disorders, Pervasive* / genetics
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 7 / genetics*
  • Comparative Genomic Hybridization
  • DNA Copy Number Variations
  • Haploinsufficiency / genetics
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Membrane Proteins / genetics*
  • Persistent Hyperplastic Primary Vitreous* / complications
  • Persistent Hyperplastic Primary Vitreous* / genetics
  • Tetraspanins
  • Vesicular Transport Proteins / genetics*

Substances

  • CADPS2 protein, human
  • Calcium-Binding Proteins
  • Membrane Proteins
  • TSPAN12 protein, human
  • Tetraspanins
  • Vesicular Transport Proteins