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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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Furkejuvvon:
Váldodahkkit: Shan-Yu Gao, Yu-Xing Liu, Yi Dong, Liang-Liang Fan, Qi Ding, Lv Liu
Materiálatiipa: Artigo
Giella:Inglês
Almmustuhtton: Frontiers Media S.A. 2023-10-01
Ráidu:Frontiers in Genetics
Fáttát:
WASHC5
spastic paraplegia
splicing variant
heterozygote
whole-exome sequencing
Liŋkkat:https://www.frontiersin.org/articles/10.3389/fgene.2023.1205052/full
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