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Article

A de novo low-frequency mosaic variant of KIF1A causes hereditary spastic paraplegia: A literature review.

Annals of human genetics - 1 Jul 2023

Liu Mengyuan, Li Bing, Wang Xiaona, Li Dongxiao, Xie Zhenhua, Li Yuke, Gao Yang, Chen Baiyun, Zhang Huichun, Wang Yanli, Gao Chao

Abstract excerpt

OBJECTIVE: The objective of this study was to investigate the pathogenesis and inheritance pattern of a Chinese Han family with hereditary spastic paraplegia and to retrospectively analyze the characteristics of KIF1A gene variants and related clinical manifestations. METHODS: High-throughput whole-exome sequencing was performed on members of a Chinese Han family with a clinical diagnosis of hereditary spastic...

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PMID: 36896784
DOI: 10.1111/ahg.12503

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