Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 149A, Issue 8, Pages 1758-1762Publisher
WILEY
DOI: 10.1002/ajmg.a.32941
Keywords
DISC1; DISC2; TSNAX; autism spectrurn disorder; chromosome 1q42
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Funding
- NIGMS NIH HHS [T32 GM008307-19, T32 GM008307] Funding Source: Medline
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Individuals with autism spectrum disorders have impairments in social, communicative, and behavior development that are often accompanied by abnormalities in cognitive functioning, learning, attention, and sensory processing. In this report, we describe a 3-year-old male child with an autism spectrum disorder who carries a 2 Mb deletion of chromosome 1q42. Array comparative genome hybridization revealed that this deletion involves at least three genes-DISC1, DISC2, and TSNAX-which have been found to be associated with neuropsychiatric disorders and are likely to play key roles in normal CNS development. Further studies revealed that the deletion was inherited from his unaffected mother. This suggests that other genetic and/or environmental factors, some of which may be sex specific, may modify the phenotypic effects of this deletion. While this case provides evidence for the potential role of DISC], DISC2, and TSNAX in the development of autism spectrum disorders, it is equally clear that caution must be taken when providing families with prognostic information and genetic counseling regarding such deletions. (C) 2009 Wiley-Liss, Inc.
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