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Emerging therapies targeting patients with specific mutations are now becoming a reality for many of these patients. Precise molecular diagnosis is essential to facilitate the identification of possible new treatments for patients in the local context. In this study, we screened 145 dystrophinopathic patients in Singapore and assessed their molecular status for eligibility to current emerging genetic therapies. Overall, 140 (96.5%) of all patients harbored pathogenic <jats:italic>DMD<\/jats:italic> mutations comprising 95 exonic deletions (65.5%), 14 exonic duplications (9.7%), and 31 pathogenic small mutations (21.4%). Nonsense and frameshift mutations constitute 83.9% of all the small mutations. We found 71% (103\/145) of all Singaporean dystrophinopathy patients to be theoretically amenable for exon skipping, either through skipping of single (53.1%) or multiple exons (17.9%). This approach is applicable to 81.1% (77\/95) of patients carrying deletions and 83.9% (26\/31) of those with small mutations. Eteplirsen induced skipping of exon 51 is applicable to 12.4% of local patients. Nonsense read\u2010through therapy was found to be applicable in another 12.4% of all patients. Mutation screening is crucial for providing insights into the underlying genetic signature of the disease in the local population and contributes toward existing information on <jats:italic>DMD<\/jats:italic> mutations in Asia and globally. This will guide future targeted drug development and clinical trial planning for this disease.<\/jats:p>","DOI":"10.1002\/ajmg.c.31704","type":"journal-article","created":{"date-parts":[[2019,5,13]],"date-time":"2019-05-13T15:39:51Z","timestamp":1557761991000},"page":"230-244","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapy"],"prefix":"10.1002","volume":"181","author":[{"given":"Swati","family":"Tomar","sequence":"first","affiliation":[{"name":"Department of Paediatrics, Yong Loo Lin School of Medicine National University of Singapore  Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vikaesh","family":"Moorthy","sequence":"additional","affiliation":[{"name":"Yong Loo Lin School of Medicine National University of Singapore  Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raman","family":"Sethi","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Yong Loo Lin School of Medicine National University of Singapore  Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josiah","family":"Chai","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Neuroscience Institute  Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Poh Sim","family":"Low","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Yong Loo Lin School of Medicine National University of Singapore  Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stacey Tay Kiat","family":"Hong","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Yong Loo Lin School of Medicine National University of Singapore  Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3352-2000","authenticated-orcid":false,"given":"Poh San","family":"Lai","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Yong Loo Lin School of Medicine National University of Singapore  Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,5,13]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20918"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103387"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-8-43"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1089\/nat.2017.0682"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.20586"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.5.304"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2016.05.003"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature15393"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00205170"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2156-2-17"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2156-10-66"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20428"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(18)30024-3"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(18)30025-5"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(18)30026-7"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(09)70271-6"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(91)92671-N"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20132"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymthe.2017.02.019"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.25396"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.3577405"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp320"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12975"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20422"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-017-0431-6"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/0471142905.hg0903s49"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(02)00080-9"},{"issue":"4","key":"e_1_2_7_30_1","first-page":"385","article-title":"Differential diagnosis between Duchenne muscular dystrophy and limb girdle muscular dystrophy 2a","volume":"41","author":"Dobrescu M. 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