{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:10:24Z","timestamp":1790813424466,"version":"4.1.0"},"reference-count":34,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,11,24]],"date-time":"2022-11-24T00:00:00Z","timestamp":1669248000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Dystrophinopathies are X\u2010linked recessive conditions caused by pathogenic variants in the dystrophin (<jats:italic>DMD<\/jats:italic>) gene. In a family that included two boys with Becker muscular dystrophy (BMD) due to a <jats:italic>DMD<\/jats:italic> deletion of exons 45\u201347, maternal carrier testing unexpectedly identified biallelic <jats:italic>DMD<\/jats:italic> deletions of exons 45\u201347 and 49\u201351.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The patient's mild phenotype in the setting of biallelic <jats:italic>DMD<\/jats:italic> variants prompted further investigation of the exon 49\u201351 deletion in particular, via literature review and retrospective chart review of patients who have been evaluated in our institution's comprehensive neuromuscular center and\/or diagnosed in our clinical genetic testing laboratory.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>To our knowledge, this is only the fifth case of confirmed biallelic <jats:italic>DMD<\/jats:italic> variants in a female. In males, the <jats:italic>DMD<\/jats:italic> exon 49\u201351 deletion appears to result in a mild BMD phenotype with low or normal creatine kinase levels. This deletion comprised 19% (4\/21) of dystrophinopathies diagnosed by chromosomal microarray (CMA) in males during the past ten years in our clinical laboratory. Most individuals identified by chart review were diagnosed through CMA, despite the fact that microarray was genome\u2010wide and not <jats:italic>DMD<\/jats:italic>\u2010specific. This case raised important genetic counseling issues.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The <jats:italic>DMD<\/jats:italic> exon 49\u201351 deletion appears to cause a variable but generally mild BMD phenotype. Its relatively frequent detection by CMA suggests it may be underdiagnosed.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2088","type":"journal-article","created":{"date-parts":[[2022,11,25]],"date-time":"2022-11-25T06:39:41Z","timestamp":1669358381000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Identification of Biallelic dystrophin gene variants during maternal carrier testing for Becker muscular dystrophy and review of the <i>DMD<\/i> exon 49\u201351 deletion phenotype"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7467-5527","authenticated-orcid":false,"given":"Elizabeth A.","family":"Ulm","sequence":"first","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chinmayee B.","family":"Nagaraj","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"},{"name":"Division of Neurology Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cuixia","family":"Tian","sequence":"additional","affiliation":[{"name":"Division of Neurology Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"},{"name":"Department of Pediatrics University of Cincinnati School of Medicine  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa A.","family":"Smolarek","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"},{"name":"Department of Pediatrics University of Cincinnati School of Medicine  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,11,24]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.3390\/jpm11010046"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073815570154"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474\u20104422(18)30024\u20103"},{"issue":"1","key":"e_1_2_12_5_1","first-page":"1","article-title":"Deletion mutations in DMD gene and disease phenotype among Saudi patients with Duchenne muscular dystrophy","volume":"4","author":"Chaudhary A. 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