{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T02:10:53Z","timestamp":1758161453214,"version":"3.44.0"},"reference-count":18,"publisher":"Mathematical Modelling and Numerical Simulation with Applications","issue":"01","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>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.<\/jats:p>","DOI":"10.1055\/s-0040-1713850","type":"journal-article","created":{"date-parts":[[2020,7,10]],"date-time":"2020-07-10T07:10:30Z","timestamp":1594365030000},"page":"023-028","source":"Crossref","is-referenced-by-count":6,"title":["Next-Generation Sequencing in a Cohort of Asian Indian Patients with the Duchenne Muscular Dystrophy Phenotype: Diagnostic Yield and Mutation Spectrum"],"prefix":"10.53391","volume":"10","author":[{"given":"Gayatri","family":"Nerakh","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Prajnya","family":"Ranganath","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sakthivel","family":"Murugan","sequence":"additional","affiliation":[{"name":"MedGenome Labs Ltd., Bengaluru, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"31409","published-online":{"date-parts":[[2020,7,8]]},"reference":[{"issue":"11","key":"ref1","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1136\/jmedgenet-2011-100133","article-title":"Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform","volume":"48","author":"B C Lim","year":"2011","journal-title":"J Med 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McDonald","year":"2017","journal-title":"Lancet"},{"issue":"01","key":"ref17","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1016\/j.nmd.2014.11.011","article-title":"European Medicines Agency review of ataluren for the treatment of ambulant patients aged 5 years and older with Duchenne muscular dystrophy resulting from a nonsense mutation in the dystrophin gene","volume":"25","author":"M Haas","year":"2015","journal-title":"Neuromuscul Disord"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"6244","DOI":"10.1038\/ncomms7244","article-title":"Multiplex CRISPR\/Cas9-based genome editing for correction of dystrophin mutations that cause Duchenne muscular dystrophy","volume":"6","author":"D G Ousterout","year":"2015","journal-title":"Nat Commun"}],"container-title":["Journal of Pediatric 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