Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans.

ABSTRACT: The CELSR1 gene is a core component of the tissue/planar cell polarity signaling pathway. It encodes a developmentally regulated protein that belongs to the adhesion G protein-coupled receptors. Herein we describe seven subjects, from five unrelated families, featuring a neurodevelopmental disorder associated with biallelic CELSR1 variants. The main phenotypic features of this disorder are different types of brain malformations (including pachygyria, periventricular nodular heterotopia, abnormal corpus callosum, white matter abnormalities, hypoplasia of brainstem and cerebellum), variable degrees of neurodevelopmental delay and intellectual disability, behavioral disorders, and, in some subjects, epilepsy. Using whole exome sequencing, we identify five compound heterozygous variants and on

SUBMITTER: Bonardi CM 

PROVIDER: S-EPMC12827284 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature