Journal
CLINICAL GENETICS
Volume 77, Issue 4, Pages 389-394Publisher
WILEY
DOI: 10.1111/j.1399-0004.2009.01318.x
Keywords
1q42; 2; autism; DISC1; duplication
Categories
Funding
- Fund for Scientific Research-Flanders FWO, Belgium
- Interuniversity Attraction Poles (Belgian State) [GOA 2006/12]
- Cure Autism Now (USA)
Ask authors/readers for more resources
We describe the identification and delineation of an inherited 2.07 Mb microduplication in 1q42.2 in two brothers with autism and mild mental retardation. Since this duplication was not present in 1577 Belgian persons, we consider this as an extremely rare variant which has the potential to provide further insight into the genetics of autism. The duplication contains seven genes including the DISC1 gene, an interesting candidate gene that has been associated to schizophrenia, bipolar disorder, autism and Asperger syndrome. In this report we describe additional analyses undertaken to investigate the causal relationship of the duplication to the autism phenotype. We conclude that the 1q42.2 microduplication probably confers susceptibility to autism in the current family. This study is a typical illustration of the difficult interpretation of causality of a very rare variant in neuropsychiatric disease and the challenge of genetic counselling in a particular family.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available