Article ; Online: The clinical utility of a risk-modifying SNP to detect carriers for spinal muscular atrophy with increased sensitivity.
Molecular genetics & genomic medicine
2022 Volume 10, Issue 4, Page(s) e1897
Abstract: Background: Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease caused by biallelic inactivation of the survival motor neuron 1 (SMN1) gene. With a prevalence of ~1 in 11,000 live births (carrier frequency of ~1:50), SMA is one ... ...
| Abstract | Background: Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease caused by biallelic inactivation of the survival motor neuron 1 (SMN1) gene. With a prevalence of ~1 in 11,000 live births (carrier frequency of ~1:50), SMA is one of the most common severe childhood-onset diseases; therefore, current guidelines recommend pan-ethnic carrier screening for SMA before or during pregnancy. Routine SMN1 copy number assessment detects ~96% of all SMA carriers, but not the remaining 4% who harbor two copies of SMN1 arrayed in -cis [2 + 0]. The c.*3+80T>G risk-modifying SNP positively correlates with this chromosomal configuration and may be used to modify the residual risk of being a carrier for SMA. Methods: One year after incorporating the detection of the c.*3+80>G risk-modifying SNP into our routine SMA carrier screen, we perform a retrospective chart review to evaluate its frequency and utilization in the prenatal clinic. Results: In comparison with classic carriers for SMA, study data show that individuals with two copies of SMN1 and the risk modifier were counseled less frequently about their increased risk of being a carrier for SMA. Conclusion: Incorporating the c.*3+80T>G risk-modifying SNP is important for detecting carriers for SMA with a higher clinical sensitivity. |
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| MeSH term(s) | Child ; Female ; Genetic Carrier Screening ; Genetic Counseling ; Humans ; Inheritance Patterns ; Muscular Atrophy, Spinal/diagnosis ; Muscular Atrophy, Spinal/genetics ; Pregnancy ; Retrospective Studies ; Survival of Motor Neuron 1 Protein/genetics |
| Chemical Substances | Survival of Motor Neuron 1 Protein |
| Language | English |
| Publishing date | 2022-03-15 |
| Publishing country | United States |
| Document type | Journal Article |
| ZDB-ID | 2734884-2 |
| ISSN | 2324-9269 ; 2324-9269 |
| ISSN (online) | 2324-9269 |
| ISSN | 2324-9269 |
| DOI | 10.1002/mgg3.1897 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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