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Article

Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy.

Human genetics - 1 Jan 2023

Vezain Myriam, Thauvin-Robinet Christel, Vial Yoann, Coutant Sophie, Drunat Séverine, Urtizberea Jon Andoni, Rolland Anne, Jacquin-Piques Agnès, Fehrenbach Séverine, Nicolas Gaël, Lecoquierre François, Saugier-Veber Pascale

Abstract excerpt

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder resulting from biallelic alterations of the SMN1 gene: deletion, gene conversion or, in rare cases, intragenic variants. The disease severity is mainly influenced by the copy number of SMN2, a nearly identical gene, which produces only low amounts of full-length (FL) mRNA. Here we describe the first example of retrotransposon insertion...

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PMID: 36138164
DOI: 10.1007/s00439-022-02473-6

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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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