Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection
Open Access
- 22 April 2009
- journal article
- research article
- Published by Springer Nature in European Journal of Human Genetics
- Vol. 17 (10), 1347-1353
- https://doi.org/10.1038/ejhg.2009.47
Abstract
SHANK3 is located on chromosome 22q13.3 and encodes a scaffold protein that is found in excitatory synapses opposite the pre-synaptic active zone. SHANK3 is a binding partner of neuroligins, some of whose genes contain mutations in a small subset of individuals with autism. In individuals with autism spectrum disorders (ASDs), several studies have found SHANK3 to be disrupted by deletions ranging from hundreds of kilobases to megabases, suggesting that 1% of individuals with ASDs may have these chromosomal aberrations. To further analyse the involvement of SHANK3 in ASD, we screened the International Molecular Genetic Study of Autism Consortium (IMGSAC) multiplex family sample, 330 families, for SNP association and copy number variants (CNVs) in SHANK3. A collection of 76 IMGSAC Italian probands from singleton families was also examined by multiplex ligation-dependent probe amplification for CNVs. No CNVs or SNP associations were found within the sample set, although sequencing of the gene was not performed. Our data suggest that SHANK3 deletions may be limited to lower functioning individuals with autism.Keywords
This publication has 51 references indexed in Scilit:
- Novel Submicroscopic Chromosomal Abnormalities Detected in Autism Spectrum DisorderBiological Psychiatry, 2008
- Structural Variation of Chromosomes in Autism Spectrum DisorderAmerican Journal of Human Genetics, 2008
- Molecular Cytogenetic Analysis and Resequencing of Contactin Associated Protein-Like 2 in Autism Spectrum DisordersAmerican Journal of Human Genetics, 2008
- Contribution of SHANK3 Mutations to Autism Spectrum DisorderAmerican Journal of Human Genetics, 2007
- A genome-wide association study of global gene expressionNature Genetics, 2007
- Completing the map of human genetic variationNature, 2007
- Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disordersNature Genetics, 2006
- Absence of coding mutations in the X‐linked genes neuroligin 3 and neuroligin 4 in individuals with autism from the IMGSAC collectionAmerican Journal Of Medical Genetics Part B-Neuropsychiatric Genetics, 2006
- Haploview: analysis and visualization of LD and haplotype mapsBioinformatics, 2004
- Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autismNature Genetics, 2003