Carrier screening for spinal muscular atrophy
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The observed SMN carrier rate is in the range of rates of carriers, which is between 2.50% and 1.67% across the population.
“This is in the range of rates of carriers, which is between 2.50% and 1.67% across the population69.”
From Comprehensive genome analysis and variant detection at scale using DRAGEN (2025) · cites this paper as [69]
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- [2]Lefebvre S, Burglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995; 80: 155- 165 7813012
- [3]McAndrew PE, Parsons DW, Simard LR, et al. Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. Am J Hum Genet 1997; 60: 1411- 1422 9199562 PMC1716150
- [4]Mailman MD, Heinz JW, Papp AC, et al. Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2. Genet Med 2002; 4: 20- 26 11839954
- [5]Ogino S, Wilson RB. Genetic testing and risk assessment for spinal muscular atrophy (SMA). Hum Genet 2002; 111: 477- 500 12436240
- [6]Pearn J. Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. J Med genet 1978; 15: 409- 413 745211 PMC1013753
- [7]Wirth B, Rudnik-SchonebornS, Hahnen E, Rohrig D, Zerres K. Prenatal prediction in families with autosomal recessive proximal spinal muscular atrophy (5q11.2-q13.3): molecular genetics and clinical experience in 109 cases. Prenat Diagn 1995; 15: 407- 417 7644431
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Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data
Chen, X., Sanchis-Juan, A., French, C. E., Connell, A. J., Delon, I., Kingsbury, Z., Chawla, A., Halpern, A. L., Taft, R. J., Bentley, D. R., et al. (2020) · Genetics in Medicine · doi:10.1038/s41436-020-0754-0 · Cited by 137 · see citing works
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Comprehensive genome analysis and variant detection at scale using DRAGEN
Behera, S., Catreux, S., Rossi, M., Truong, S., Huang, Z., Ruehle, M., Visvanath, A., Parnaby, G., Roddey, C., Onuchic, V., et al. (2025) · Nature Biotechnology · doi:10.1038/s41587-024-02382-1 · Cited by 137 · see citing works
A universal carrier test for the long tail of Mendelian disease
Srinivasan, B. S., Evans, E. A., Flannick, J., Patterson, A. S., Chang, C. C., Pham, T., Young, S., Kaushal, A., Lee, J., Jacobson, J. L., et al. (2010) · Reproductive BioMedicine Online · doi:10.1016/j.rbmo.2010.05.012 · Cited by 105 · see citing works
- Authors
- Prior, T. W.
- Affiliations
- The Ohio State University (US)
- Corresponding author
- Prior, Thomas W.
- Venue
- Genetics in Medicine
- Publisher
- Elsevier BV
- Published
- 2008-11
- Volume
- 10
- Issue
- 11
- Pages
- 840-842
- ISSN
- 1098-3600 (ISSN-L)
- PMC
- PMC3110347
- OpenAlex
- W2052461624
- Cited by
- 270
- References
- 0
- Citations by year
- 2026: 10 · 2025: 9 · 2024: 23 · 2023: 18 · 2022: 21 · 2021: 12 · 2020: 27 · 2019: 18 · 2018: 20 · 2017: 18 · 2016: 11 · 2015: 12 · 2014: 10 · 2013: 14 · 2012: 7
- FWCI
- 5.83
- Type
- journal article
- Language
- en
- Update notices
- addendum (2022-11-01)
- Open access
- bronze
- doi.org
- Licence
- Locations
- Genetics in Medicine (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Genetics › Neurogenetic and Muscular Disorders Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Keywords
- spinal muscular atrophy, carrier screening, autosomal recessive disorder, neuromuscular disorders, carrier frequency, Werdnig-Hoffmann disease, SMA type I, SMA type 2, SMA type 3, cystic fibrosis
- MeSH terms
- Female, Genetic Testing, Heterozygote, Humans, Male, Spinal Muscular Atrophies of Childhood
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