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

ConclusionWe present novel compound heterozygous variants (c.1744G>A/c.2042G>A) in our proband, and these novel variants were predicted to be likely pathogenic. The affected siblings were clinically severe and lethal; their phenotypes were similar to the majority of previously reported SNDC cases, with the exception of two cases that showed mild clinical manifestations.VAC14 pathogenic variants may be associated with various phenotypes. Herein, we report the Chinese siblings with SNDC, they are the first Asian cases. Our results expanded the spectrum ofVAC14 pathogenic variants and the ethnic backgrounds of the affected cases.

Source: Molecular Genetics & Genomic Medicine - December 25, 2019 Category: Genetics & Stem Cells Authors: Shuang Liao, Tingting Chen, Ying Dai, Yanqin Wang, Fangrui Wu, Min Zhong Tags: ORIGINAL ARTICLE Source Type: research