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Article

Genotype-phenotype association and functional analysis of hnRNPA1 mutations in amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Aug 2024

Zhang Xinyi, Sun Ye, Zhang Xinzhe, Shen Dongchao, Shu Shi, Yang Xunzhe, Liu Mingsheng, Cui Liying, Liu Qing, Zhang Xue

Abstract excerpt

BACKGROUND: Pathogenic variants in hnRNPA1 have been reported in amyotrophic lateral sclerosis (ALS) patients. However, studies on hnRNPA1 mutant spectrum and pathogenicity of variants were rare. METHODS: We performed whole exome sequencing of ALS-associated genes and subsequent verification of rare variants in hnRNPA1 in our ALS patients. The hnRNPA1 mutations reported in literature were reviewed and combined...

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Identifiers

PMID: 38717009
DOI: 10.1080/21678421.2024.2346502

Genes

FAS
G3BP1

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