Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2

doi:10.3390/ijms23158289

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Article

Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2

International journal of molecular sciences - 27 Jul 2022

Blasco-Pérez Laura, Costa-Roger Mar, Leno-Colorado Jordi, Bernal Sara, Alias Laura, Codina-Solà Marta, Martínez-Cruz Desirée, Castiglioni Claudia, Bertini Enrico, Travaglini Lorena, Millán José M, Aller Elena, Sotoca Javier, Juntas Raúl, Hoei-Hansen Christina Engel, Moreno-Escribano Antonio, Guillén-Navarro Encarna, Costa-Comellas Laura, Munell Francina, Boronat Susana, Rojas-García Ricardo, Povedano Mónica, Cuscó Ivon, Tizzano Eduardo F

Abstract excerpt

Spinal muscular atrophy (SMA) is a severe neuromuscular disorder caused by biallelic loss or pathogenic variants in the SMN1 gene. Copy number and modifier intragenic variants in SMN2, an almost identical paralog gene of SMN1, are known to influence the amount of complete SMN proteins. Therefore, SMN2 is considered the main phenotypic modifier of SMA, although genotype−phenotype correlation is not absolute. We...

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PMID: 35955418
DOI: 10.3390/ijms23158289
PMCID: PMC9368089

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