Chromosome 15 abnormalities and autistic symptomatology: case - control investigations

Bolton, P.F., Rijsdijk, F., Craig, E., Veltman, M., Thompson, R., Thomas, S., Roberts, S. and Curran, S.R. (2005) Chromosome 15 abnormalities and autistic symptomatology: case - control investigations. DeLisi, Lynn E and DePalma, Gail (eds.) In Abstracts of the XIII World Congress on Psychiatric Genetics 2005. John Wiley & Sons Ltd. p.S64 . (doi:10.1002/ajmg.b.30233).

Abstract

Introduction: Case reports and uncontrolled studies of small case series have suggested that abnormalities of chromosome 15 that involve the Prader-Willi/Angelman Syndrome critical region (PWACR) are associated with an increased risk for autism spectrum disorders. We have investigated this issue in a large number of individuals with various forms of chromosome 15 abnormality, comparing the frequency of autistic symptomatology in these cases with the frequency in various control samples.
Methods: Individuals with duplications (n¼30), supernumery marker chromosome 15’s (n¼32), Prader-Willi Syndrome (disomy cases¼49 deletion cases¼47) were assessed using questionnaire (SCQ), innterview (ADI-R) and observational (ADOS-G) measures of autistic symptomatology and the frequency of symptoms compared to the that found in unaffected relative and Down syndrome controls.
Results: Autistic symptomatalogy was strongly associated with the presence and number of extra copies of the PWACR. Within and between group contrasts suggested that the increased risk for autistic symptomatology was related to over expression of maternally expressed genes.
Conclusions: Genes within the Prader-Willi/Angelman syndrome critical region are candidate genes in the aetiology of autism spectrum disorders. Dysregulation of maternally expressed genes is a potential candidate mechanism. However, molecular genetic organisation in this region is complex with methylation and chromatin structure change and epistatic interactions with genes in other regions being possible.

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