ArticleAnnals of neurology2014
Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa.
Article in Annals of neurology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
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Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.
- Current profile of Charcot-Marie-Tooth disease in Africa: A systematic review.Journal of the peripheral nervous system : JPNS · 2022Pooled it
- Advancing neurogenetics in Africa: past achievements, current developments and shaping the future.Nature reviews. Neurology · 2025Review
- Incidence of HomozygousGenes · 2025Article
- 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
- AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia.Neurobiology of disease · 2024Article
- ComplexNeurology. Genetics · 2024Article
- Spinal muscular atrophy: Molecular mechanism of pathogenesis, diagnosis, therapeutics, and clinical trials in the Indian context.Journal of biosciences · 2024Review
- Hereditary spastic paraplegia in Mali: epidemiological and clinical features.Acta neurologica Belgica · 2023Article
- Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans.Neurology. Genetics · 2023Article
- Spinal Muscular Atrophy: The Past, Present, and Future of Diagnosis and Treatment.International journal of molecular sciences · 2023Review
- The Carrier Frequency of TwoGenes · 2023Article
- Current status and future directions of amyotrophic lateral sclerosis research in Africa: a perspective.Annals of medicine and surgery (2012) · 2023Article
- Screening and prenatal diagnosis of survival motor neuron gene deletion in pregnant women in Zhaoqing city, Guangdong Province.BMC medical genomics · 2023Article
- A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans.Orphanet journal of rare diseases · 2022Review
- [Clinical and laboratory features of recessive Limb Girdle Muscular dystrophies in the Department Neurology of University Hospital of Point G].Health sciences and disease : the journal of medicine and health science · 2021Article
- Genomic Variability in the Survival Motor Neuron Genes (International journal of molecular sciences · 2021Review
- Etiologies of Childhood Hearing Impairment in Schools for the Deaf in Mali.Frontiers in pediatrics · 2021Article
- Spinal muscular atrophy - insights and challenges in the treatment era.Nature reviews. Neurology · 2020Review
- Spinal Muscular Atrophy in the Black South African Population: A Matter of Rearrangement?Frontiers in genetics · 2020Article
Corrections and comments
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Authors and funding
36 authors at 8 institutions in 3 countries.
Funding
Abstract
objectiveSpinal muscular atrophy (SMA) is one of the most common severe hereditary diseases of infancy and early childhood in North America, Europe, and Asia. SMA is usually caused by deletions of the survival motor neuron 1 (SMN1) gene. A closely related gene, SMN2, modifies the disease severity. SMA carriers have only 1 copy of SMN1 and are relatively common (1 in 30-50) in populations of European and Asian descent. SMN copy numbers and SMA carrier frequencies have not been reliably estimated in Malians and other sub-Saharan Africans.
methodsWe used a quantitative polymerase chain reaction assay to determine SMN1 and SMN2 copy numbers in 628 Malians, 120 Nigerians, and 120 Kenyans. We also explored possible mechanisms for SMN1 and SMN2 copy number differences in Malians, and investigated their effects on SMN mRNA and protein levels.
resultsThe SMA carrier frequency in Malians is 1 in 209, lower than in Eurasians. Malians and other sub-Saharan Africans are more likely to have ≥3 copies of SMN1 than Eurasians, and more likely to lack SMN2 than Europeans. There was no evidence of gene conversion, gene locus duplication, or natural selection from malaria resistance to account for the higher SMN1 copy numbers in Malians. High SMN1 copy numbers were not associated with increased SMN mRNA or protein levels in human cell lines.
interpretationSMA carrier frequencies are much lower in sub-Saharan Africans than in Eurasians. This finding is important to consider in SMA genetic counseling in individuals with black African ancestry.
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Registered trials
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