Case report: A novel WASHC5 variant altering mRNA splicing causes spastic paraplegia in a patient

Case report: A novel WASHC5 variant altering mRNA splicing causes spastic paraplegia in a patient

Background: Hereditary spastic paraplegia (HSP) is a progressive upper-motor neurodegenerative disease. Mutations in the WASHC5 gene are associated with autosomal dominant HSP, spastic paraplegia 8 (SPG8). However, due to the small number of reported cases, the exact mechanism remains unclear.Method...

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Bibliographic Details
Main Authors: Shan-Yu Gao, Yu-Xing Liu, Yi Dong, Liang-Liang Fan, Qi Ding, Lv Liu
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-10-01
Series:Frontiers in Genetics
Subjects:
WASHC5
spastic paraplegia
splicing variant
heterozygote
whole-exome sequencing
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1205052/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2023.1205052/full

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