Using Extended Pedigrees to Identify Novel Autism Apectrum Disorder (ASD) Candidate Genes

Published November 29, 2014 in Human Genetics

Copy number variations are known to play a role in autism spectrum disorders. In a novel approach to study CNVs that may be present in family members, scientists look at genes in multiple generations of families affected with or without ASD as well as other psychiatric disorders. In one family, a part of chromosome 11 jumped out as being important for autism and what is known as the broader autism phenotype. (This is when a person does not have a diagnosis but meets some of the criteria for ASD.) This region contains genes for mitochondrial function and detoxification, but was found in the only family where the specific mutation was passed on beyond just parent to child. This shows that the genetic risk factors are complex and not even the same within the same family.

http://www.ncbi.nlm.nih.gov/pubmed/25432440

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