Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication

Abstract

This is the first report of a co-occurrence of pathogenic variants with familial dup16p11.2. Our finding suggests that the variable expressivity among carriers of rare putatively pathogenic CNVs such as dup16p11.2 warrants further study by WES and individualized genetic counselling of families with such CNVs.