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TableĀ 3 Novel CNVs of high interest identified in children with autism

From: Novel copy number variants in children with autism and additional developmental anomalies

AGRE Family ID AGRE Individual ID Additional Phenotype Del/Dup Size (kb) Chromosome Location Genes in Region Present in Affected Siblings Present in Unaffected Siblings Parent of Origin Confirmation Type
AU0053 03 Alopecia Areata Dup 336 137 3p26.2, 3p26.1 LRRN1 (NLRR1) Upstream of GRM7 Yes N/A Paternal qPCR
AU0677 03 Adducted Thumbs Del 261 6q24.3 STXBP5 No No Maternal qPCR/LOH
AU0109 04 Clinodactyly Dup 166 4q34.3 WDR17, SPATA4, ASB5 Yes No Paternal qPCR
AU1334 302 Microphthalmia Del 317 1q24.2 XCL1, XCL2, DPT Yes No Paternal qPCR/LOH
AU0383 03 none Del 177 7q35 CNTNAP2 No N/A Paternal qPCR
  1. Individuals listed (unless otherwise noted) were diagnosed with primary autism and have secondary developmental abnormalities according to physical exams and medical records collected by AGRE. Further information about these families is available in the supplementary materials of this paper