{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:02:15Z","timestamp":1753869735962,"version":"3.41.2"},"reference-count":16,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2019,7,25]],"date-time":"2019-07-25T00:00:00Z","timestamp":1564012800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2019,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Variable disease phenotypes can be influenced by several factors such as allelic variation, environmental factors, genetic modifiers, and genotype\u2013environment interaction. Herein to the best of our knowledge, this is the first report of the coexistence of <jats:italic>DMD<\/jats:italic> and <jats:italic>RNF213<\/jats:italic> gene mutations in a Korean family with differing disease phenotypes of Duchenne muscular dystrophy (DMD) and Moyamoya disease (MMD) in each female sibling.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Deletion or duplication of the exon in <jats:italic>DMD<\/jats:italic> was screened using multiplex ligation\u2010dependent probe amplification (MLPA). Subsequently, single exon deletion or duplication identified by MLPA was confirmed by Sanger sequencing. On the other hand, a common missense mutation [NM_001256071.2:c.14429G&gt;A (p.Arg4810Lys)] related to MMD in exon 60 of <jats:italic>RNF213<\/jats:italic> was also identified by Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Three female family members carried the same disease\u2010causing mutations, c.9953_9954delAG of <jats:italic>DMD<\/jats:italic> and c.14429G&gt;A of <jats:italic>RNF213<\/jats:italic>. Two (II\u20102 and II\u20103) of these siblings suffer from the disease but exhibited different DMD or MMD symptoms, while the mother (I\u20102) seemed almost unaffected.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This report illustrates the difficulty that might be encountered in the interpretation of complex clinical manifestations when different genetic defects affecting neuromuscular and vascular diseases coexist.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.862","type":"journal-article","created":{"date-parts":[[2019,7,26]],"date-time":"2019-07-26T03:49:46Z","timestamp":1564112986000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Differing disease phenotypes of Duchenne muscular dystrophy and Moyamoya disease in female siblings of a Korean family"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7354-4234","authenticated-orcid":false,"given":"Joonhong","family":"Park","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine, College of Medicine The Catholic University of Korea Seoul Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8376-0133","authenticated-orcid":false,"given":"Woori","family":"Jang","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Inha University School of Medicine Incheon Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4174-5266","authenticated-orcid":false,"given":"Ji Yoon","family":"Han","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, College of Medicine The Catholic University of Korea Seoul Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,7,25]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-13-73"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000188909.89849.59"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-015-0252-4"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2010.132"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.3171\/2015.4.JNS142900"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1161\/STROKEAHA.107.490714"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2013.119"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2006.096040"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1161\/JAHA.115.001862"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.3171\/2013.4.PEDS12420"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/35056009"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2015.11.004"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/82558"},{"issue":"5","key":"e_1_2_7_15_1","first-page":"649","article-title":"Genetic modifiers of beta\u2010thalassemia","volume":"90","author":"Thein S. L.","year":"2005","journal-title":"Haematologica"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-016-1666-6"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2017.70"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.862","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.862","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.862","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,9]],"date-time":"2023-09-09T00:31:00Z","timestamp":1694219460000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.862"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,7,25]]},"references-count":16,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2019,9]]}},"alternative-id":["10.1002\/mgg3.862"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.862","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"type":"print","value":"2324-9269"},{"type":"electronic","value":"2324-9269"}],"subject":[],"published":{"date-parts":[[2019,7,25]]},"assertion":[{"value":"2019-03-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-07-05","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-07-25","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e862"}}