Predictive impact of rare genomic copy number variations in high-risk infant siblings of individuals with autism. Predictive impact of rare genomic copy number variations in high-risk infant siblings of individuals with autism

Identification of biological markers, including genes, predictive of Autism Spectrum Disorder (ASD) is a mandate of the Baby Siblings Research Consortium (BSRC)1. The BSRC includes a biorepository from families along with comprehensive longitudinal clinical evaluation data. We hypothesized that shared genetic variants contribute to increased risk of ASD within these sibships, and that genomic findings in infant siblings might help to anticipate ASD, facilitating early intervention. Using clinical microarray - the first-tier genetic diagnostic test for developmental disabilities2 - we studied 253 families, encompassing 288 sibs, ascertained through ASD affected probands (91 families had accompanying whole genome sequencing data). Of the siblings, 103 (35.7%) were diagnosed with ASD by age 3 years, and a further 54 (18.8%) were developing atypically. We found copy number variants (CNVs) involving ASD-relevant genes in 13 siblings: 6 with ASD, 5 with atypical... (for more see dbGaP study page.)