Characterization of the 16p11.2 600 kb BP4-BP5 CNVs in adult population cohort

Abstract

The 16p11.2 BP4-BP5 600 kb deletion and duplication carriers from clinical cohorts result in syndromes that affect neurodevelopment and anthropometric traits, but are also characterized by variable expressivity of associated phenotypic outcomes. The phenotype analysis showed that the 16p11.2 CNV carriers in the EGC UT adult population have characteristic features of 16p11.2 600 kb syndromes. Additionally, the adult cohort has common features, which are significantly recurrent comparing to EGC UT general population. Also, a new approach was used for finding genetic modifiers contributing to the variability of genomic disorders phenotypes. The wholeexome analysis found potential modifying substitutions for 4 adult 16p11.2 CNV carriers’ specific features. According to our phenotypic and genotypic findings, it is important to conduct a detailed phenotypic assessment of individuals with particular genetic disorder and further investigate the exome or genome of the carriers to more precisely predict the severity and diverse outcomes of disease.