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Article

SMN1 mutation spectrum and functional analysis of novel SMN1 variants in a Chinese spinal muscular atrophy cohort.

Journal of human genetics - 1 Aug 2026

Li Gui-He, Wu Li-Wen, Li Jing, Dong Sen-Wei, Hong Jing-Mei, Xie Ying-Xuan, Sun Yu-Hao, He Jin, Wang Ning, Chen Wan-Jin, Chen Hai-Zhu

Abstract excerpt

Spinal muscular atrophy is the most common fatal neurogenetic disorder in infancy and early childhood, caused by insufficient expression of SMN protein due to mutations in the survival motor neuron 1 (SMN1) gene. In this study, we describe the SMN1 mutation spectrum in our SMA cohort and the clinical characteristics of 30 patients with SMN1 compound heterozygous mutations. We find the c.22_23insA hotspot mutation...

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Identifiers

PMID: 41942601
DOI: 10.1038/s10038-026-01473-y

Genes

SMN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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