ArticleCommunications medicine2024
Spinal muscular atrophy genetic epidemiology and the case for premarital genomic screening in Arab populations.
Article in Communications medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed.
- Article
- Retrospective analysis of spinal muscular atrophy in tunisian population: phenotypic-genotypic associations and considerations for therapeutic advancement.Neurogenetics · 2026Article
- A genomics health strategy for the Arabian Gulf.Nature medicine · 2026Article
- Targeted long-read genomic and epigenomic profiling enhances timely comprehensive variant discovery in hypotonia and muscle weakness.BMC medicine · 2026Article
- Citywide premarital genomic screening in a Middle Eastern population.Nature medicine · 2026Article
- Genomics of rare diseases in the Greater Middle East.Nature genetics · 2025Review
- Healthcare systems and health economics in GCC countries: informing decision-makers from the perspective of the Gulf health economics association.Frontiers in public health · 2025Article
- Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.Genetics in medicine open · 2025Article
- In Search of Spinal Muscular Atrophy Disease Modifiers.International journal of molecular sciences · 2024Review
Corrections and comments
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Authors and funding
20 authors.
Funding
Abstract
backgroundSpinal muscular atrophy (SMA) is a fatal autosomal recessive disorder for which several treatment options, including a gene therapy, have become available. SMA incidence has not been well-characterized in most Arab countries where rates of consanguinity are high. Understanding SMA disease epidemiology has important implications for screening, prevention, and treatment in those populations.
methodsWe perform SMA diagnostic testing in a clinical multi-national patient cohort (N = 171) referred for hypotonia and/or muscle weakness. In addition, we carry out genetic newborn screening for SMA on 1502 healthy Emirati newborns to estimate the carrier frequency and incidence of the disease in the United Arab Emirates.
resultsPatients referred for SMA genetic testing are mostly Arabs (82%) representing 18 countries. The overall diagnostic yield is 33.9%, which is higher (>50%) for certain nationalities. Most patients (71%) has two SMN2 copies and earlier disease onset. For the first time, we estimate SMA carrier frequency (1.3%) and incidence of the disease (1 in 7122 live births) in the United Arab Emirates. Using birth and marriage rates in two Arab populations (United Arab Emirates and Saudi Arabia), as well as disease incidence in both countries, we show that, besides preventing new cases, premarital genetic screening could potentially result in around $8 to $324 million annual cost savings, respectively, relative to postnatal treatment.
conclusionsThe SMA carrier frequency and incidence we document suggests high potential benefit for universal implementation of premarital genomic screening for a wide range of recessive disorders in Arab populations.
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Registered trials
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