Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G

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, SM...

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Detalles Bibliográficos
Autores: Blasco-Pérez, Laura|||0000-0001-6483-5742, Costa-Roger, Mar|||0000-0001-8949-9466, Leno Colorado, Jordi|||0000-0001-6049-256X, Bernal, Sara|||0000-0003-4427-0574, Alías, Laura|||0000-0003-2193-6185, Codina Solà, Marta|||0000-0002-5382-413X, Martínez-Cruz, Desirée, Castiglioni, Claudia, Bertini, Enrico, Travaglini, Lorena, Millán, José|||0000-0002-7211-9129, Aller, Elena|||0000-0001-7973-5250, Sotoca Fernández, Javier|||0000-0003-3400-1434, Juntas, Raúl, Hoei-Hansen, Christina Engel|||0000-0002-6191-694X, Moreno-Escribano, Antonio, Guillén-Navarro, Encarna|||0000-0002-2915-7381, Costa-Comellas, Laura|||0000-0002-1180-8772, Munell Casadesus, Francina|||0000-0001-8580-2819, Boronat, Susana|||0000-0001-7096-5578, Rojas-Garcia, Ricard|||0000-0003-1411-5573, Povedano, Mónica, Cusco, Ivon|||0000-0003-2104-9332, Tizzano, Eduardo F.|||0000-0002-7116-6310
Tipo de recurso: artículo
Fecha de publicación:2022
País:España
Institución:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:275207
Acceso en línea:https://ddd.uab.cat/record/275207
https://dx.doi.org/urn:doi:10.3390/ijms23158289
Access Level:acceso abierto
Palabra clave:Spinal muscular atrophy
SMN2 copies
Phenotype-genotype correlations
Positive modifiers
Next-generation sequencing
Descripción
Sumario: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 present eleven unrelated SMA patients with milder phenotypes carrying the c.859G.

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