Article
Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk.
PloS one - 1 Jan 2011
Salyakina Daria, Cukier Holly N, Lee Joycelyn M, Sacharow Stephanie, Nations Laura D, Ma Deqiong, Jaworski James M, Konidari Ioanna, Whitehead Patrice L, Wright Harry H, Abramson Ruth K, Williams Scott M, Menon Ramkumar, Haines Jonathan L, Gilbert John R, Cuccaro Michael L, Pericak-Vance Margaret A
Abstract excerpt
Copy number variations (CNVs) are a major cause of genetic disruption in the human genome with far more nucleotides being altered by duplications and deletions than by single nucleotide polymorphisms (SNPs). In the multifaceted etiology of autism spectrum disorders (ASDs), CNVs appear to contribute significantly to our understanding of the pathogenesis of this complex disease. A unique resource of 42 extended ASD...
Topics
- Adolescent
- Child
- Child Development Disorders, Pervasive
- Child, Preschool
- DNA Copy Number Variations
- Female
- Genetic Predisposition to Disease
- Humans
- Male