ArticleAmerican journal of human genetics1998
Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers.
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Who cites it
67 citing papers in PubMed, 177 citations in OpenAlex.
- Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment.The Journal of clinical investigation · 2019Trial
- Evaluation of muscle strength and motor abilities in children with type II and III spinal muscle atrophy treated with valproic acid.BMC neurology · 2011Trial
- MyomiR Networks in Spinal Muscular Atrophy: Associations With Clinical Severity and Treatment Response.Molecular neurobiology · 2026Article
- A self-reported Brazilian registry of 5q-spinal muscular atrophy: data on natural history, genetic characteristics, and multidisciplinary care.Arquivos de neuro-psiquiatria · 2024Article
- Spinal muscular atrophy: Molecular mechanism of pathogenesis, diagnosis, therapeutics, and clinical trials in the Indian context.Journal of biosciences · 2024Review
- Analysis of spinal muscular atrophy carrier screening results in 32,416 pregnant women and 7,231 prepregnant women.Frontiers in neurology · 2024Article
- Article
- Compendium of causative genes and their encoded proteins for common monogenic disorders.Protein science : a publication of the Protein Society · 2022Article
- Comprehensive Mutation Analysis and Report of 12 Novel Mutations in a Cohort of Patients with Spinal Muscular Atrophy in Iran.Journal of molecular neuroscience : MN · 2021Article
- What Genetics Has Told Us and How It Can Inform Future Experiments for Spinal Muscular Atrophy, a Perspective.International journal of molecular sciences · 2021Article
- Genomic Variability in the Survival Motor Neuron Genes (International journal of molecular sciences · 2021Review
- Impaired prenatal motor axon development necessitates early therapeutic intervention in severe SMA.Science translational medicine · 2021Article
- Update on Biomarkers in Spinal Muscular Atrophy.Biomarker insights · 2021Review
- Dual Mechanism of a New SMN1 Variant (c.835G>C, p.Gly279Arg) by Interrupting Exon 7 Skipping and YG Oligomerization in Causation of Spinal Muscular Atrophy.Journal of molecular neuroscience : MN · 2021Article
- Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A Genetic Testing Reference Materials Coordination Program Collaborative Project.The Journal of molecular diagnostics : JMD · 2021Article
- Conditional deletion of SMN in cell culture identifies functional SMN alleles.Human molecular genetics · 2020Article
- Intragenic complementation of amino and carboxy terminal SMN missense mutations can rescue Smn null mice.Human molecular genetics · 2020Article
- Intragenic variants in theNeurology. Genetics · 2020Article
- Genetic approaches to the treatment of inherited neuromuscular diseases.Human molecular genetics · 2019Review
- Characteristics and advantages of adeno-associated virus vector-mediated gene therapy for neurodegenerative diseases.Neural regeneration research · 2019Review
7 more citing papers are in PubMed but not listed here.
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The autosomal recessive neuromuscular disorder proximal spinal muscular atrophy (SMA) is caused by the loss or mutation of the survival motor neuron (SMN) gene, which exists in two nearly identical copies, telomeric SMN (telSMN) and centromeric SMN (cenSMN). Exon 7 of the telSMN gene is homozygously absent in approximately 95% of SMA patients, whereas loss of cenSMN does not cause SMA. We searched for other telSMN mutations among 23 SMA compound heterozygotes, using heteroduplex analysis. We identified telSMN mutations in 11 of these unrelated SMA-like individuals who carry a single copy of telSMN: these include two frameshift mutations (800ins11 and 542delGT) and three missense mutations (A2G, S262I, and T274I). The telSMN mutations identified to date cluster at the 3' end, in a region containing sites for SMN oligomerization and binding of Sm proteins. Interestingly, the novel A2G missense mutation occurs outside this conserved carboxy-terminal domain, closely upstream of an SIP1 (SMN-interacting protein 1) binding site. In three patients, the A2G mutation was found to be on the same allele as a rare polymorphism in the 5' UTR, providing evidence for a founder chromosome; Ag1-CA marker data also support evidence of an ancestral origin for the 800ins11 and 542delGT mutations. We note that telSMN missense mutations are associated with milder disease in our patients and that the severe type I SMA phenotype caused by frameshift mutations can be ameliorated by an increase in cenSMN gene copy number.
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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.