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.
Copyright © 2011 Wiley-Liss, Inc.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Calcium-Binding Proteins / genetics*
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Child Development Disorders, Pervasive* / complications
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Child Development Disorders, Pervasive* / genetics
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Child, Preschool
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Chromosome Deletion*
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Chromosomes, Human, Pair 7 / genetics*
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Comparative Genomic Hybridization
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DNA Copy Number Variations
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Haploinsufficiency / genetics
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Humans
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Magnetic Resonance Imaging
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Male
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Membrane Proteins / genetics*
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Persistent Hyperplastic Primary Vitreous* / complications
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Persistent Hyperplastic Primary Vitreous* / genetics
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Tetraspanins
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Vesicular Transport Proteins / genetics*
Substances
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CADPS2 protein, human
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Calcium-Binding Proteins
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Membrane Proteins
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TSPAN12 protein, human
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Tetraspanins
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Vesicular Transport Proteins