EP081: Dandy Walker malformation in three unrelated families with biallelic variants in CAPN15 expands the phenotypic spectrum of oculogastrointestinal neurodevelopmental disorder

Abstract

Oculogastrointestinal neurodevelopmental disorder (OMIM #619318) has been described in seven previously published individuals who harbor biallelic pathogenic variants in the CAPN15 gene. Biallelic missense variants presumably lead to a more moderate phenotype of eye abnormalities and developmental delay, while biallelic loss of function (nonsense, frameshift) variants exhibit more severe phenotypes including microcephaly and craniofacial abnormalities, cardiac and genitourinary malformations, and abnormal neurologic activity.