ArticleHuman genetics2019
Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype.
Article in Human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 1 of them a synthesis that pooled it.
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Who cites it
56 citing papers in PubMed, 1 synthesis or guideline pooled it, 86 citations in OpenAlex.
- DySMA - an Instrument to Monitor Swallowing Function in Children with Spinal Muscular Atrophy ages 0 to 24 Months: Development, Consensus, and Pilot Testing.Journal of neuromuscular diseases · 2024Guideline
- Survival Motor Neuron Protein Requirement-Supply Mismatch in Spinal Muscular Atrophy: A Conceptual Framework.Advances in therapy · 2026Review
- Retrospective analysis of spinal muscular atrophy in tunisian population: phenotypic-genotypic associations and considerations for therapeutic advancement.Neurogenetics · 2026Article
- Multimodal characterisation of the SMN locus in SMA: copy number quantification and hybrid gene identification.NPJ genomic medicine · 2026Article
- Administration practice and adherence of nusinersen in adults with 5q-spinal muscular atrophy in China: an ambispective multicenter study.BMC neurology · 2026Observational
- Swallowing development in infants and toddlers with spinal muscular atrophy following therapy compared to healthy controls: the prospective controlled DySMA trial.Orphanet journal of rare diseases · 2026Article
- Effectiveness and Safety of Nusinersen Among Adults with 5q-Spinal Muscular Atrophy: A Multicenter Disease Registry in China.Advances in therapy · 2026Article
- Advancing personalized spinal muscular atrophy care: matching the right biomarker to the right patient at the right time.Journal of neurology · 2025Review
- Review
- Correlation Between the Motor Outcomes and SMN2 and NAIP Gene Copy Numbers Among North Indian Children with Spinal Muscular Atrophy.Annals of Indian Academy of Neurology · 2025Article
- Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy.Genome medicine · 2025Article
- [Research progress on phenotypic modifier genes in spinal muscular atrophy].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Review
- Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational study.Orphanet journal of rare diseases · 2025Observational
- Review
- Maximal mouth opening in infants and toddlers with spinal muscular atrophy: a prospective controlled study.Orphanet journal of rare diseases · 2025Article
- Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community.International journal of neonatal screening · 2025Article
- Cytoskeleton dysfunction of motor neuron in spinal muscular atrophy.Journal of neurology · 2024Review
- Comprehensive copy number analysis of spinal muscular atrophy among the Iranian population.Scientific reports · 2024Article
- SMN2 gene copy number affects the incidence and prognosis of motor neuron diseases in Japan.BMC medical genomics · 2024Article
- The Relevance of Spinal Muscular Atrophy Biomarkers in the Treatment Era.Biomedicines · 2024Review
Corrections and comments
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Authors and funding
16 authors at 5 institutions in 2 countries.
Funding
Abstract
Spinal muscular atrophy (SMA) is a progressive motor neuron disease caused by loss or mutation of the survival motor neuron 1 (SMN1) gene and retention of SMN2. We performed targeted capture and sequencing of the SMN2, CFTR, and PLS3 genes in 217 SMA patients. We identified a 6.3 kilobase deletion that occurred in both SMN1 and SMN2 (SMN1/2) and removed exons 7 and 8. The deletion junction was flanked by a 21 bp repeat that occurred 15 times in the SMN1/2 gene. We screened for its presence in 466 individuals with the known SMN1 and SMN2 copy numbers. In individuals with 1 SMN1 and 0 SMN2 copies, the deletion occurred in 63% of cases. We modeled the deletion junction frequency and determined that the deletion occurred in both SMN1 and SMN2. We have identified the first deletion junction where the deletion removes exons 7 and 8 of SMN1/2. As it occurred in SMN1, it is a pathogenic mutation. We called variants in the PLS3 and SMN2 genes, and tested for association with mild or severe exception patients. The variants A-44G, A-549G, and C-1897T in intron 6 of SMN2 were significantly associated with mild exception patients, but no PLS3 variants correlated with severity. The variants occurred in 14 out of 58 of our mild exception patients, indicating that mild exception patients with an intact SMN2 gene and without modifying variants occur. This sample set can be used in the association analysis of candidate genes outside of SMN2 that modify the SMA phenotype.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.