Loss of ANK3 Function Causes a Recessive Neurodevelopmental Disorder with Cerebellar Ataxia.

ABSTRACT:

Background

ANK3 encodes ankyrin-G, a key scaffolding protein essential for neuronal function. While both monoallelic and biallelic ANK3 variants have been linked to neurodevelopmental disorders (NDDs), existing evidence for their pathogenicity and clinical correlation remains limited and heterogeneous.

Objective

To delineate the clinical features associated with biallelic ANK3 predicted loss-of-function (pLOF) variants.

Methods

We employed exome sequencing, Sanger validation, detailed clinical phenotyping, and extensive international data sharing to identify patients with biallelic ANK3 variants.

Results

We describe five individuals from three unrelated consanguineous families with segregating homozygous ANK3 pLOF variants. These patients presented with a relat

SUBMITTER: Maroofian R 

PROVIDER: S-EPMC12661628 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature