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Next-Generation Sequencing in a Cohort of Asian Indian Patients with the Duchenne Muscular Dystrophy Phenotype: Diagnostic Yield and Mutation Spectrum
- Source :
- J Pediatr Genet
- Publication Year :
- 2020
-
Abstract
- Multiplex ligation-dependent probe amplification (MLPA) detects exonic deletions and duplications in the DMD gene in around 65 to 70% of patients with the Duchenne muscular dystrophy (DMD) phenotype. This study looks at the diagnostic yield of next-generation sequencing (NGS) and the mutation spectrum in an Asian Indian cohort of MLPA-negative cases with the DMD phenotype. NGS-based sequencing of DMD gene was done in 28 MLPA-negative cases (25 male probands with the DMD phenotype and 3 obligate carrier mothers of deceased affected male patients) and disease-causing variants were identified in 19 (67.9%) of these cases. Further molecular testing in four of the remaining nine cases revealed gene variants associated with limb girdle muscular dystrophies. Thus, NGS-based multigene panel testing for muscular dystrophy-associated genes or clinical exome sequencing rather than targeted DMD gene sequencing appears to be a more cost-effective testing modality with better diagnostic yield, for MLPA-negative patients with the DMD phenotype.
- Subjects :
- Proband
Genetics
musculoskeletal diseases
congenital, hereditary, and neonatal diseases and abnormalities
business.industry
Duchenne muscular dystrophy
medicine.disease
Phenotype
DNA sequencing
Pediatrics, Perinatology and Child Health
Obligate carrier
medicine
Multiplex ligation-dependent probe amplification
business
Gene
Genetics (clinical)
Exome sequencing
Subjects
Details
- ISSN :
- 21464596
- Volume :
- 10
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Journal of pediatric genetics
- Accession number :
- edsair.doi.dedup.....7d1f944be654a2a7a86f28fc2221d3ee