Chunk #33 — Results — Analysis of rare de novo CNVs in the Simons Simplex Collection (SSC) — Genotype-phenotype analyses of probands carrying 16p11.2 and 7q11.23 CNVs
The extensive phenotypic data available on the SSC sample provides great potential to undertake fine-grained analyses of genotype-phenotype relationships. At present the limiting factor with regard to recurrent de novo CNVs is the small sample size, even for 16p11.2 duplications and deletions in this dataset. However, we undertook an exploratory analysis of a range of phenotypic features and found several that yielded significant p-values. While none would survive correction for multiple comparisons, we report them here (Table 2, Table S5) in the interest of generating hypotheses for future studies. For example, individuals with 16p11.2 duplications had higher hyperactivity scores, compared to matched control probands, while probands carrying 7q11.23 duplications showed significantly more behavioral problems (ABC total), but less severe social and communication impairment during ADOS administration.
