Chunk #13 — Results — Analysis of rare de novo CNVs in the Simons Simplex Collection (SSC) — Rare, de novo, genic CNVs are over-represented in simplex probands
Given the strong male predominance and increased rates of ASD in monogenic X-linked intellectual disability syndromes, we paid particular attention to rare de novo CNVs on the X chromosome but found only 2 events: one genic deletion present in a male at the gene DDX53 and a duplication involving 6 genes in a female sibling (Xq11.1). This small number precluded meaningful group comparisons. Importantly, neither these, nor any subsequent statistical results reported here were substantively altered by the exclusion of 15 confirmed rare de novo CNVs identified during our detection optimization experiments that did not then meet our minimum probe criteria (Table S4). Of note, however, one of these was an exonic deletion of NLGN3 on chromosome X in a male proband. (Table S4)
