Novel VAC14 variants identified in two Chinese siblings with childhood-onset striatonigral degeneration.

ABSTRACT:

Background

VAC14 is a component of a trimolecular complex that tightly regulates the level of phosphatidylinositol 3,5-bisphosphate [PI (3,5) P2]. VAC14 pathogenic variants cause prominent vacuolation of neurons in basal ganglia of patients with childhood-onset striatonigral degeneration (SNDC).

Methods

We identified two siblings with SNDC. Whole-exome sequencing was performed for genetic molecular analysis in these probands.

Results

The patients were compound heterozygotes for two novel variants in the VAC14 gene, p.Ala582Thr and p.Arg681His. The pathogenicity of these variants was indicated by a bioinformatic study and protein three-dimensional modeling. Eight previously reported SNDC cases and a Yunis-Varón syndrome caused by VAC14 mutations were summarized and com

SUBMITTER: Liao S 

PROVIDER: S-EPMC7005630 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature