Work

Novel GNB4 Gene Variant and the Spectrum of GNB4 Variants in Patients With Charcot-Marie-Tooth Disease

Year: 2025

Type: article

Abstract: Background and Objectives: -related neuropathy based on the currently reported cases. Methods: variants; we then reviewed and reclassified these variants in accordance with the ACMG guidelines and latest databases and evidence. Results: variants reported in the literature and the variant found in this study. We found pathogenic variants to cluster on 3D in the GNB4 protein. Discussion: We reinterpreted the 8 previously reported GNB4 gene variants in the literature from 10 unrelated families in addition to the novel variant reported in this study in patients with hereditary neuropathy. We show that GNB4-associated neuropathy is associated with mixed axonal and demyelinating features presenting with usually symmetric lower limb motor weakness and sensory loss and/or upper limb weakness and sensory loss.

Source: Neurology Genetics

DOI: 10.1212/nxg.0000000000200310