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Article

A rare variant (c.863G>T) in exon 7 of SMN1 disrupts mRNA splicing and is responsible for spinal muscular atrophy.

European journal of human genetics : EJHG - 1 Jun 2016

Qu Yu-Jin, Bai Jin-Li, Cao Yan-Yan, Zhang Wen-Hui, Wang Hong, Jin Yu-Wei, Song Fang

Abstract excerpt

Proximal spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by deletion or mutation of SMN1 (survival motor neuron 1). SMN exon 7 splicing is regulated by a number of exonic and intronic regulatory sequences and the trans-factors that bind them. Variants located in or near these regulated regions should be evaluated to determine their effect on splicing. We identified the rare...

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Source

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Identifiers

PMID: 26419278
DOI: 10.1038/ejhg.2015.213
PMCID: PMC4867452

Genes

SMN1
SMN2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A rare variant (c.863G>T) in exon 7 of SMN1 disrupts mRNA splicing and is responsible for spinal muscular atrophy.PMID 26419278Read ↗

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