Article
Intellectual disability is associated with increased runs of homozygosity in simplex autism.
American journal of human genetics - 11 Jul 2013
Gamsiz Ece D, Viscidi Emma W, Frederick Abbie M, Nagpal Shailender, Sanders Stephan J, Murtha Michael T, Schmidt Michael, Triche Elizabeth W, Geschwind Daniel H, State Matthew W, Istrail Sorin, Cook Edwin H, Devlin Bernie, Morrow Eric M
Abstract excerpt
Intellectual disability (ID), often attributed to autosomal-recessive mutations, occurs in 40% of autism spectrum disorders (ASDs). For this reason, we conducted a genome-wide analysis of runs of homozygosity (ROH) in simplex ASD-affected families consisting of a proband diagnosed with ASD and at least one unaffected sibling. In these families, probands with an IQ ≤ 70 show more ROH than their unaffected...
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