ArticleJournal of human genetics2015
A new method for SMN1 and hybrid SMN gene analysis in spinal muscular atrophy using long-range PCR followed by sequencing.
Article in Journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed, 60 citations in OpenAlex.
- Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study.Neuromuscular disorders : NMD · 2019Trial
- Article
- Characterizing SMN1 hybrid and deletion alleles using large-scale SNP array-based SMA carrier screening.BMC medical genomics · 2026Article
- SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions.American journal of human genetics · 2026Article
- The survival motor neuron protein: structure, functions, stability, and therapeutic targeting.Frontiers in cellular neuroscience · 2026Review
- Performance of cellulose-based card for direct genetic testing of spinal muscular atrophy.BMC biotechnology · 2025Article
- 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
- Article
- Unraveling the genetic mysteries of spinal muscular atrophy in Chinese families.Orphanet journal of rare diseases · 2025Article
- Nusinersen Improves Motor Function in Type 2 and 3 Spinal Muscular Atrophy Patients across Time.Biomedicines · 2024Article
- ComplexNeurology. Genetics · 2024Article
- Article
- Spinal muscular atrophy: Molecular mechanism of pathogenesis, diagnosis, therapeutics, and clinical trials in the Indian context.Journal of biosciences · 2024Review
- Article
- Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilot study.Molecular genetics & genomic medicine · 2023Article
- ClinicalHuman mutation · 2023Article
- Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort.Journal of neuromuscular diseases · 2023Article
- Spinal muscular atrophy type I associated with a novelFrontiers in neurology · 2023Article
- Study on the efficacy, safety, and biomarkers of nusinersen in type II and III spinal muscular atrophy in children.Frontiers in pediatrics · 2023Article
- Long-Read Sequencing Revealed Extragenic and Intragenic Duplications of Exons 56-61 inFrontiers in genetics · 2022Article
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by progressive loss of motor neurons in the spinal cord. Approximately 95% of SMA patients have a homozygous deletion of the survival motor neuron 1 (SMN1) gene, whereas 5% harbor compound heterozygous mutations such as an SMN1 deletion allele and an intragenic mutation in the other SMN1 allele. It is difficult to detect intragenic mutations in SMN1 because of the high degree of homology shared between SMN1 and SMN2. Current methods analyze a restricted region from exon 2a to exon 7 in SMN1. We propose a new, efficient long-range polymerase chain reaction (PCR) method for detecting intragenic mutations in SMN1 (exon 1-8) and hybrid SMN genes. We analyzed 20 unrelated SMA patients using SMN copy number analysis, and the new long-range PCR method followed by sequencing. We thus confirmed a novel mutation in SMN1 exon 1 (c.5C>T) in three patients with SMA type III who also had an SMN1 deletion allele. Moreover, we confirmed three hybrid SMN gene types in eight patients. We report a novel SMN1 mutation responsible for a relatively mild SMA phenotype and three hybrid SMN gene types in patients with SMA type III.
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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.