Investigating Genetic Factors Contributing to Variable Expressivity of Class I 17p13.3 Microduplication.

ABSTRACT: 17p13.3 microduplications are rare copy number variations (CNVs) associated with variable phenotypes, including facial dysmorphism, developmental delay, intellectual disability, and autism. Typically, when a recognized pathogenic CNV is identified, other genetic factors are not considered. We investigated via whole-exome sequencing the presence of additional variants in four carriers of class I 17p13.3 microduplications. A 730 kb 17p13.3 microduplication was identified in two half-brothers with intellectual disability, but not in a third affected half-brother or blood cells from their normal mother (Family A), thus leading to the hypothesis of maternal germline mosaicism. No additional pathogenic variants were detected in Family A. Two affected siblings carried maternally inherited 450 kb

SUBMITTER: Tolezano GC 

PROVIDER: S-EPMC7936075 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature