A 1q42 deletion involving DISC1, DISC2, and TSNAX in an autism spectrum disorder

Abstract

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 DISC1, 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.

FIG. 1

Array comparative genome hybridization data and a schematic representation of the maternally inherited ~2 Mb deletion present in our patient. The deletion encompasses all or portions of at least 15 known genes (shown in red) including the 5′ end of DISC1—exons 1 to 10—and all of DISC2 and TSNAX. The green bar represents the minimal deleted region. [Color figure can be viewed in the online issue, which is available at www.interscience.wiley.com.].