ArticlePloS one2019
The frequency of SMN gene variants lacking exon 7 and 8 is highly population dependent.
Article in PloS one, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 40 citations in OpenAlex.
- Likelihood-based optimization enables accurate copy number estimation for paralogous genes using exome data.Bioinformatics (Oxford, England) · 2026Article
- Multimodal characterisation of the SMN locus in SMA: copy number quantification and hybrid gene identification.NPJ genomic medicine · 2026Article
- Application of whole genome sequencing for carrier and diagnostic assessment of spinal muscular atrophy in Taiwan.NPJ genomic medicine · 2025Article
- Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community.International journal of neonatal screening · 2025Article
- Real time-PCR a diagnostic tool for reporting copy number variation and relative gene-expression changes in pediatric B-cell acute lymphoblastic leukemia-a pilot study.Biology methods & protocols · 2025Article
- NAIP Gene Deletion and SMN2 Copy Number as Molecular Tools in Predicting the Severity of Spinal Muscular Atrophy.Biochemical genetics · 2024Article
- Nusinersen Improves Motor Function in Type 2 and 3 Spinal Muscular Atrophy Patients across Time.Biomedicines · 2024Article
- An Update on Parkinson's Disease and its Neurodegenerative Counterparts.Current medicinal chemistry · 2024Review
- Spinal muscular atrophy: Molecular mechanism of pathogenesis, diagnosis, therapeutics, and clinical trials in the Indian context.Journal of biosciences · 2024Review
- Association among biomarkers, phenotypes, and motor milestones in Chinese patients with 5q spinal muscular atrophy types 1-3.Frontiers in neurology · 2024Article
- The Frequency ofGlobal medical genetics · 2023Article
- Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing.American journal of human genetics · 2023Article
- Robust and accurate estimation of paralog-specific copy number for duplicated genes using whole-genome sequencing.Nature communications · 2022Article
- The Importance of Digging into the Genetics ofInternational journal of molecular sciences · 2021Review
- Article
- Genomic Variability in the Survival Motor Neuron Genes (International journal of molecular sciences · 2021Review
- Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients.Human mutation · 2021Article
- Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR.Neurogenetics · 2021Article
- SMN1 copy-number and sequence variant analysis from next-generation sequencing data.Human mutation · 2020Article
- Practical guidelines to manage discordant situations ofNeurology. Genetics · 2020Article
Corrections and comments
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Authors and funding
13 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Spinal Muscular Atrophy (SMA) is a disorder characterized by the degeneration of motor neurons in the spinal cord, leading to muscular atrophy. In the majority of cases, SMA is caused by the homozygous absence of the SMN1 gene. The disease severity of SMA is strongly influenced by the copy number of the closely related SMN2 gene. In addition, an SMN variant lacking exons 7 and 8 has been reported in 8% and 23% of healthy Swedish and Spanish individuals respectively. We tested 1255 samples from the 1000 Genomes Project using a new version of the multiplex ligation-dependent probe amplification (MLPA) P021 probemix that covers each SMN exon. The SMN variant lacking exons 7 and 8 was present in up to 20% of individuals in several Caucasian populations, while being almost completely absent in various Asian and African populations. This SMN1/2Δ7-8 variant appears to be derived from an ancient deletion event as the deletion size is identical in 99% of samples tested. The average total copy number of SMN1, SMN2 and the SMN1/2Δ7-8 variant combined was remarkably comparable in all populations tested, ranging from 3.64 in Asian to 3.75 in African samples.
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Registered trials
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.