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Article

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

Molecular genetics & genomic medicine - 1 Feb 2020

Liao Shuang, Chen Tingting, Dai Ying, Wang Yanqin, Wu Fangrui, Zhong Min

Abstract excerpt

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...

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PMID: 31876398
DOI: 10.1002/mgg3.1101
PMCID: PMC7005630

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