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Article

Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy.

Genome medicine - 21 Mar 2025

Zwartkruis M M, Elferink M G, Gommers D, Signoria I, Blasco-Pérez L, Costa-Roger M, van der Sel J, Renkens I J, Green J W, Kortooms J V, Vermeulen C, Straver R, van Deutekom H W M, Veldink J H, Asselman F, Tizzano E F, Wadman R I, van der Pol W L, van Haaften G W, Groen E J N

Abstract excerpt

BACKGROUND: The complex 2 Mb survival motor neuron (SMN) locus on chromosome 5q13, including the spinal muscular atrophy (SMA)-causing gene SMN1 and modifier SMN2, remains incompletely resolved due to numerous segmental duplications. Variation in SMN2 copy number, presumably influenced by SMN1 to SMN2 gene conversion, affects disease severity, though SMN2 copy number alone has insufficient prognostic value due to...

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Share to DNA Copy Number Variations
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscular Atrophy, Spinal

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Source

Open in PubMed Open full text

Identifiers

PMID: 40119448
DOI: 10.1186/s13073-025-01448-2
PMCID: PMC11927269

Genes

SMN2
SMN1
NAIP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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