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Catalog
2023 ACMG Annual Clinical Genetics Meeting Digital ...
SMA Carrier Screening Utilizing SNP Array Technolo ...
SMA Carrier Screening Utilizing SNP Array Technology and Confirmatory ddPCR Reveals an Isolated
SMN1
Exon 8 Deletion
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Pdf Summary
A study conducted by Mayo Clinic researchers found that utilizing SNP array technology and confirmatory ddPCR can help identify an isolated deletion in exon 8 of the SMN1 gene, which is associated with spinal muscular atrophy (SMA). SMA is a genetic neurodegenerative disease characterized by progressive muscle weakness and atrophy. The severity and onset of symptoms depend on the number of copies of the SMN2 gene, with fewer copies leading to more severe forms of the disease. The study retrospectively reviewed the results of expanded carrier screening (ECS) using SNP array technology and identified nine cases with heterozygous deletion of SMN1 exon 8. Confirmatory ddPCR testing confirmed these deletions and also suggested the presence of hybrid alleles. It was noted that while large deletions that include the whole SMN1 gene are the most common cause of SMA, non-deletion pathogenic variants in SMN1 are also observed, albeit in a small percentage of cases. The study highlights the importance of considering isolated homozygous SMN1 exon 8 deletions as a cause of SMA. The researchers recommended offering SMA carrier screening to all couples regardless of race or ethnicity, ideally before conception or early in pregnancy. This screening can help identify carriers of SMA, which has a carrier frequency of approximately 1 in 40 individuals.
Asset Subtitle
Co-Author - Noemi Vidal-Folch, BS; Co-Author - Jennifer Winters, BS; Co-Author - Devin Oglesbee, PhD; Co-Author - Linda Hasadsri, MD, PhD, FACMG; Presenting Author - Sara L. Cook, M.D., Ph.D.;
Meta Tag
Genetic Testing
Genomic Methodologies
Genotype-Phenotype Correlations
Co-Author
Noemi Vidal-Folch, BS
Co-Author
Jennifer Winters, BS
Co-Author
Devin Oglesbee, PhD
Co-Author
Linda Hasadsri, MD, PhD, FACMG
Presenting Author
Sara L. Cook, M.D., Ph.D.
Keywords
SNP array technology
ddPCR
isolated deletion
exon 8
SMN1 gene
spinal muscular atrophy
genetic neurodegenerative disease
muscle weakness
progressive atrophy
SMN2 gene
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