Consolidating the Role of Mutated ATP2B2 in Neurodevelopmental and Cerebellar Pathologies.

ABSTRACT: Plasma membrane calcium ATPases (PMCAs) encoded by ATP2B genes have been implicated in Mendelian diseases with ataxia, dystonia, and intellectual disability. Work to date has shown that ATP2B2 (encoding PMCA2) is required for synaptic function and Purkinje-cell integrity in the cerebellum. A recent case series has linked ATP2B2 to a novel entity, characterized by neurodevelopmental and movement phenotypes, in only seven individuals. We called for collaboration to collect five unpublished families affected by the new rare ATP2B2-related condition. Exome-/genome sequencing-identified genotypes included four likely pathogenic/pathogenic heterozygous de novo missense variants and one dominantly inherited end-truncating frameshift allele. The six affected individuals shared features with the de

SUBMITTER: Stehr AM 

PROVIDER: S-EPMC11608835 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature