{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:01:35Z","timestamp":1753869695234,"version":"3.41.2"},"reference-count":16,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2020,6,14]],"date-time":"2020-06-14T00:00:00Z","timestamp":1592092800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Start-Up Funding Project of Southwest Hospital","award":["4174DM (XC)"],"award-info":[{"award-number":["4174DM (XC)"]}]},{"name":"Military Medicine Innovation Project","award":["17JS001 (ZL) and","18JS007 (QC)"],"award-info":[{"award-number":["17JS001 (ZL) and","18JS007 (QC)"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Autosomal recessive dystrophic epidermolysis bullosa (RDEB)\u00a0is an incurable and severe inherited skin disorder characterized by recurrent blistering at the sublamina densa beneath the cutaneous basement membrane. It is caused by biallelic loss\u2010of\u2010function mutation in the gene encoding type VII collagen (<jats:italic>COL7A1<\/jats:italic>).\u00a0This study aimed to identify the causative variants of a Chinese RDEB patient and further provide prenatal diagnosis for the ongoing risk pregnancy of the proband's mother.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Clinical exome sequencing (CES) has been performed and an in\u2010house pipeline was used to conduct a phenotype\u2010driven data analysis. A minigene assay was used to verify\u00a0the pathogenicity of a novel splice site variant in the\u00a0<jats:italic>COL7A1<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Here we report two compound heterozygous variants in <jats:italic>COL7A1<\/jats:italic>, c.3867delT (p.G1290Efs*35) and c.5532+4_5532+5delAG, identified in a RDEB patient by CES. The minigene assay confirmed that thec.5532+4_5532+5delAGchange was a noncanonic splice site variant leading to in an in\u2010frame deletion of exon 64. Prenatal diagnosis indicated that the present pregnancy of the patient's mother was not affected.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our study expands the mutation spectrum of <jats:italic>COL7A1<\/jats:italic> and demonstrated that CES and minigene assays were efficient tools for RDEB molecular diagnoses.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1347","type":"journal-article","created":{"date-parts":[[2020,6,15]],"date-time":"2020-06-15T06:06:32Z","timestamp":1592201192000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Novel biallelic variants in <i>COL7A1<\/i> cause recessive dystrophic epidermolysis bullosa"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0293-825X","authenticated-orcid":false,"given":"Neng","family":"Yang","sequence":"first","affiliation":[{"name":"Key Laboratory of Freshwater Fish Reproduction and Development Ministry of Education Laboratory of Molecular Developmental Biology School of Life Sciences Southwest University Chongqing China"},{"name":"Department of Gynecology &amp; Obstetrics Southwest Hospital Third Military Medical University (Army Medical University) Chongqing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yongyi","family":"Ma","sequence":"additional","affiliation":[{"name":"Department of Gynecology &amp; Obstetrics Southwest Hospital Third Military Medical University (Army Medical University) Chongqing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong","family":"Yao","sequence":"additional","affiliation":[{"name":"Department of Gynecology &amp; Obstetrics Southwest Hospital Third Military Medical University (Army Medical University) Chongqing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qing","family":"Chang","sequence":"additional","affiliation":[{"name":"Department of Gynecology &amp; Obstetrics Southwest Hospital Third Military Medical University (Army Medical University) Chongqing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victor","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Human and Molecular Genetics Baylor College of Medicine Houston TX USA"},{"name":"AmCare Genomics Lab Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhiqing","family":"Liang","sequence":"additional","affiliation":[{"name":"Department of Gynecology &amp; 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