{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T14:57:04Z","timestamp":1784041024765,"version":"3.55.0"},"reference-count":26,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2021,7,19]],"date-time":"2021-07-19T00:00:00Z","timestamp":1626652800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100007224","name":"National Foundation for Science and Technology Development","doi-asserted-by":"publisher","award":["108.02\u20102019.05"],"award-info":[{"award-number":["108.02\u20102019.05"]}],"id":[{"id":"10.13039\/100007224","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Dystrophic epidermolysis bullosa (DEB) is a rare inherited disorder characterized by skin fragility leading to trauma\u2010induced subepidermal blisters and healing with scarring. DEB is caused by mutations in <jats:italic>COL7A1<\/jats:italic>, the gene encoding for type VII collagen (COLVII). The DEB inheritance trait is divided into dominant dystrophic epidermolysis bullosa (DDEB) and recessive dystrophic epidermolysis bullosa (RDEB).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Whole\u2010exome sequencing (WES) was performed for identifying mutations in six affected individuals of five Vietnamese families.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Three novel variants in total of eight variants were found in five families. The first novel variant causing glycine substitution (c.8279G&gt;A, p.G2760E), the remaining two novel variants resulted in splice site affecting (c.4518+2delT and c.5821\u20102A&gt;G). Functional analysis indicated that the splice site at c.4518+2delT resulted in a skipping of exon 43, leading to an in\u2010frame deletion of 12 amino acids.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our finding expands the spectrum of <jats:italic>COL7A1<\/jats:italic> mutations and reports altered splicing at c.4518+2delT during the processing of the pre\u2010mRNA. This study provides an additional scientific basis for diagnosis, genetic counseling, and prognosis purposes of EB patients.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1748","type":"journal-article","created":{"date-parts":[[2021,7,19]],"date-time":"2021-07-19T12:45:08Z","timestamp":1626698708000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Novel and very rare causative variants in the <i>COL7A1<\/i> gene of Vietnamese patients with recessive dystrophic epidermolysis bullosa revealed by whole\u2010exome sequencing"],"prefix":"10.1002","volume":"9","author":[{"given":"Thi Huyen Thuong","family":"Ma","sequence":"first","affiliation":[{"name":"Institute of Genome Research Vietnam Academy of Science and Technology Hanoi Vietnam"},{"name":"Graduate University of Science and Technology Vietnam Academy of Science and Technology Hanoi Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thi Lan Anh","family":"Luong","sequence":"additional","affiliation":[{"name":"Hanoi Medical University Hanoi Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thu Lan","family":"Hoang","sequence":"additional","affiliation":[{"name":"Hanoi Medical University Hanoi Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thi Thanh Hoa","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Institute of Genome Research Vietnam Academy of Science and Technology Hanoi Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thi Ha","family":"Vu","sequence":"additional","affiliation":[{"name":"Hanoi Medical University Hanoi Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Van Khoa","family":"Tran","sequence":"additional","affiliation":[{"name":"Vietnam Military Medical University Hanoi Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Duy Bac","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Vietnam Military Medical University Hanoi Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tien Sang","family":"Trieu","sequence":"additional","affiliation":[{"name":"Vietnam Military Medical University Hanoi Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5431-5935","authenticated-orcid":false,"given":"Hai Ha","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Institute of Genome Research Vietnam Academy of Science and Technology Hanoi Vietnam"},{"name":"Graduate University of Science and Technology Vietnam Academy of Science and Technology Hanoi Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2939-8430","authenticated-orcid":false,"given":"Van Hai","family":"Nong","sequence":"additional","affiliation":[{"name":"Institute of Genome Research Vietnam Academy of Science and Technology Hanoi Vietnam"},{"name":"Graduate University of Science and Technology Vietnam Academy of Science and Technology Hanoi Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0182-8996","authenticated-orcid":false,"given":"Dang Ton","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Institute of Genome Research Vietnam Academy of Science and Technology Hanoi Vietnam"},{"name":"Graduate University of Science and Technology Vietnam Academy of Science and Technology Hanoi Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,7,19]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13353-018-0444-7"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12336276"},{"issue":"4","key":"e_1_2_10_5_1","first-page":"671","article-title":"Glycine substitutions in the triple\u2010helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance","volume":"58","author":"Christiano A. 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