Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.

ABSTRACT:

Purpose

This study aims to comprehensively delineate the phenotypic spectrum of ACTL6B-related disorders, previously associated with both autosomal recessive and autosomal dominant neurodevelopmental disorders. Molecularly, the role of the nucleolar protein ACTL6B in contributing to the disease has remained unclear.

Methods

We identified 105 affected individuals, including 39 previously reported cases, and systematically analyzed detailed clinical and genetic data for all individuals. Additionally, we conducted knockdown experiments in neuronal cells to investigate the role of ACTL6B in ribosome biogenesis.

Results

Biallelic variants in ACTL6B are associated with severe-to-profound global developmental delay/intellectual disability, infantile intractable seizures, abs

SUBMITTER: Cali E 

PROVIDER: S-EPMC12042808 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature