Table 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 |