{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T14:35:52Z","timestamp":1787841352687,"version":"build-2784847793"},"reference-count":15,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Oftentimes, a variation at the multiplex ligation-dependent probe amplification (MLPA) probe binding site leads to improper hybridrization\/ligation of the probe showing up as a deletion of an exon leading to false positive results for the detection of Duchenne muscular dystrophy (DMD)\/Becker muscular dystrophy (BMD).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective:<\/jats:title>\n                    <jats:p>Investigating cases with single exon deletion using an alternate method [polymerase chain reaction (PCR) or sequencing] for confirmation of the deletion.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>We evaluated males with single exon deletion (n = 49) in our study population (2015-2019). Forty-six were confirmed by an alternate method (conventional PCR\/Sanger's sequencing) to confirm the deletion.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>We observed 25.12% single exon deletions in our study cohort. Further evaluation determined a false positive rate of 6.12%. Three out of 49 single exon deletions had a point mutation near the probe-binding site, indicating a false positive result. Single exon deletions, thus, need to be evaluated with extreme caution, and point mutations, if any, need to be characterized to determine the nature of their pathogenicity.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/0028-3886.355142","type":"journal-article","created":{"date-parts":[[2022,9,26]],"date-time":"2022-09-26T00:36:16Z","timestamp":1664152576000},"page":"1615-1617","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":3,"title":["Evaluation of Single Exon Deletions in DMD\/BMD: Technical and Analytical Concerns"],"prefix":"10.4103","volume":"70","author":[{"given":"Tavisha","family":"Dama","sequence":"first","affiliation":[{"name":"Department of Molecular Pathology, Metropolis Healthcare Ltd., Mumbai, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pratiksha","family":"Chheda","sequence":"additional","affiliation":[{"name":"Department of Molecular Pathology, Metropolis Healthcare Ltd., Mumbai, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shweta","family":"Limaye","sequence":"additional","affiliation":[{"name":"Department of Molecular Pathology, Metropolis Healthcare Ltd., Mumbai, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shailesh","family":"Pande","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Metropolis Healthcare Ltd., Mumbai, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sushant","family":"Vinarkar","sequence":"additional","affiliation":[{"name":"Department of Molecular Pathology, Metropolis Healthcare Ltd., Mumbai, Maharashtra, 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DMD exon deletions or duplications","volume":"18","author":"Kim","year":"2016","journal-title":"J Mol Diagn"},{"key":"R8-20250921","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1016\/j.ab.2011.12.002","article-title":"MLPA-based evidence for sequence gain: Pitfalls in confirmation and necessity for exclusion of false positives","volume":"421","author":"Varga","year":"2012","journal-title":"Anal Biochem"},{"key":"R9-20250921","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1038\/jhg.2014.54","article-title":"New variants, challenges and pitfalls in DMD genotyping: Implications in diagnosis, prognosis and therapy","volume":"59","author":"Santos","year":"2014","journal-title":"J Hum Genet"},{"key":"R10-20250921","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1089\/nat.2017.0682","article-title":"Development of Exon skipping therapies for duchenne muscular dystrophy: A critical review and a perspective on the outstanding issues","volume":"27","author":"Aartsma-Rus","year":"2017","journal-title":"Nucleic Acid Ther"},{"key":"R11-20250921","first-page":"53","article-title":"A novel point mutation (G-1 to T) in a 5' splice donor site of intron 13 of the dystrophin gene results in exon skipping and is responsible for Becker muscular dystrophy","volume":"54","author":"Hagiwara","year":"1994","journal-title":"Am J Hum Genet"},{"key":"R12-20250921","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60,706 humans","volume":"536","author":"Lek","year":"2016","journal-title":"Nature"},{"key":"R13-20250921","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1016\/j.nrl.2015.12.009","article-title":"Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases. Espectro mutacional de la distrofia muscular de Duchenne en Espa\u00f1a: estudio de 284 casos","volume":"32","author":"Vieitez","year":"2017","journal-title":"Neurologia"},{"key":"R14-20250921","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/j.cca.2014.05.018","article-title":"Validation of ambiguous MLPA results by targeted next-generation sequencing discloses a nonsense mutation in the DMD gene","volume":"436","author":"Niba","year":"2014","journal-title":"Clin Chim Acta"},{"key":"R15-20250921","doi-asserted-by":"crossref","first-page":"1141","DOI":"10.1038\/s41431-020-0643-7","article-title":"EMQN best practice guidelines for genetic testing in dystrophinopathies","volume":"28","author":"Fratter","year":"2020","journal-title":"Eur J Hum Genet"}],"container-title":["Neurology India"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/0028-3886.355142","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T13:51:18Z","timestamp":1787838678000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/0028-3886.355142"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7]]},"references-count":15,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2022]]}},"URL":"https:\/\/doi.org\/10.4103\/0028-3886.355142","relation":{},"ISSN":["0028-3886","1998-4022"],"issn-type":[{"value":"0028-3886","type":"print"},{"value":"1998-4022","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,7]]},"assertion":[{"value":"2021-05-21","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-06-09","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}