ArticleInternational journal of molecular sciences2022
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2
Article in International journal of molecular sciences, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 17 citations in OpenAlex.
- Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan.Annals of clinical and translational neurology · 2026Article
- Single NucleotideNeurology. Genetics · 2025Article
- Newborn Screening Program for Spinal Muscular Atrophy in the Campania Region (Italy): Current Limitations and Potential Perspectives.International journal of neonatal screening · 2025Article
- Incidence of HomozygousGenes · 2025Article
- Unraveling the genetic mysteries of spinal muscular atrophy in Chinese families.Orphanet journal of rare diseases · 2025Article
- Spinal muscular atrophy in the era of newborn screening: how the classification could change.Frontiers in neurology · 2025Review
- NAIP Gene Deletion and SMN2 Copy Number as Molecular Tools in Predicting the Severity of Spinal Muscular Atrophy.Biochemical genetics · 2024Article
- The Relevance of Spinal Muscular Atrophy Biomarkers in the Treatment Era.Biomedicines · 2024Review
- In Search of Spinal Muscular Atrophy Disease Modifiers.International journal of molecular sciences · 2024Review
- Nusinersen Improves Motor Function in Type 2 and 3 Spinal Muscular Atrophy Patients across Time.Biomedicines · 2024Article
- ComplexNeurology. Genetics · 2024Article
- Review
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Authors and funding
24 authors at 9 institutions in 4 countries.
Funding
Abstract
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>C-positive modifier variant in SMN2. All were studied by a specific NGS method to allow a deep characterization of the entire SMN region. Analysis of two homozygous cases for the variant allowed us to identify a specific haplotype, Smn2-859C.1, in association with c.859G>C. Two other cases with the c.859G>C variant in their two SMN2 copies showed a second haplotype, Smn2-859C.2, in cis with Smn2-859C.1, assembling a more complex allele. We also identified a previously unreported variant in intron 2a exclusively linked to the Smn2-859C.1 haplotype (c.154-1141G>A), further suggesting that this region has been ancestrally conserved. The deep molecular characterization of SMN2 in our cohort highlights the importance of testing c.859G>C, as well as accurately assessing the SMN2 region in SMA patients to gain insight into the complex genotype−phenotype correlations and improve prognostic outcomes.
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