Rare Cause 5q SMA: Molecular Genetic and Clinical Analyses of Intragenic Subtle Variants in the SMN Locus.

doi:10.1111/cge.14714

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Article

Rare Cause 5q SMA: Molecular Genetic and Clinical Analyses of Intragenic Subtle Variants in the SMN Locus.

Clinical genetics - 1 Jul 2025

Mikhalchuk Kristina, Zabnenkova Viktoria, Braslavskaya Svetlana, Chukhrova Alena, Ryadninskaya Nina, Dadaly Elena, Rudenskaya Galina, Sharkova Inna, Anisimova Inga, Bessonova Ludmila, Mishina Irina, Repina Svetlana, Petukhova Marina, Sparber Peter, Kuchina Anna, Saushev Dmitry, Artemieva Svetlana, Kurbatov Sergey, Kanivets Ilya, Zarubina Vera, Barykova Daria, Lisakonova Ekaterina, Polyakov Alexander, Shchagina Olga

Abstract excerpt

Spinal muscular atrophy 5q (5q SMA) is one of the most prevalent autosomal recessive disorders globally. The underlying cause of 5q SMA is attributed to variants in SMN1. Exon 7 of SMN1 is not detectable in major of probands with 5q SMA, and minor of probands have a combination of the deletion and an intragenic subtle variant in the second allele. From 1991 to 2023, DNA samples from 2796 probands representing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 39905579
DOI: 10.1111/cge.14714

Genes

SMN1
SMN2

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