{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T14:47:41Z","timestamp":1778683661430,"version":"3.51.4"},"reference-count":21,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2015,6,23]],"date-time":"2015-06-23T00:00:00Z","timestamp":1435017600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"This project was funded by the Deanship of Scientific Research (DSR), King Abdulaziz University, Jeddah, under grant no. (4\/165\/1435\/HiCi). The authors, therefore, acknowledge with thanks DSR for technical and financial support."}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2015,9]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Dystrophic epidermolysis bullosa (DEB) is an inherited skin disorder with variable severity and heterogeneous genetic involvement. Diagnostic approaches for this condition include clinical evaluations and electron microscopy of patients\u2019 skin biopsies, followed by Sanger sequencing (SS) of a large gene (118 exons) that encodes the alpha chain of type VII collagen (<jats:italic>COL7A1<\/jats:italic>) located on Chromosome 3p21.1. However, the use of SS may hinder diagnostic efficiency and lead to delays because it is costly and time\u2010consuming. We evaluated a 5\u2010generation consanguineous family with 3 affected individuals presenting the severe generalised DEB phenotype. Human whole\u2010exome sequencing (WES) revealed 2 homozygous sequence variants: the previously reported variant p.Arg578* in exon 13 and a novel variant p.Arg2063Gln in exon 74 of the <jats:italic>COL7A1<\/jats:italic> gene. Validation by SS, performed on all family members, confirmed the cosegregation of the 2 variants with the disease phenotype. To the best of our knowledge, 2 homozygous <jats:italic>COL7A1<\/jats:italic> variants have never been simultaneously reported in DEB patients; however, the upstream protein truncation variant is more likely to be disease\u2010causing than the novel missense variant. WES can be used as an efficient molecular diagnostic tool for evaluating autosomal recessive forms of DEB.<\/jats:p>","DOI":"10.1111\/ahg.12123","type":"journal-article","created":{"date-parts":[[2015,6,23]],"date-time":"2015-06-23T12:43:09Z","timestamp":1435063389000},"page":"350-356","source":"Crossref","is-referenced-by-count":3,"title":["Identification of Two Homozygous Sequence Variants in the <i>COL7A1<\/i> Gene Underlying Dystrophic Epidermolysis Bullosa by Whole\u2010Exome Analysis in a Consanguineous Family"],"prefix":"10.1111","volume":"79","author":[{"given":"Rehab","family":"Serafi","sequence":"first","affiliation":[{"name":"Princess Al\u2010Jawhara Albrahim Centre of Excellence in Research of Hereditary Disorders King Abdulaziz University  Jeddah Saudi Arabia"},{"name":"Department of Dermatology King Abdulaziz University Hospital  Jeddah Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Musharraf","family":"Jelani","sequence":"additional","affiliation":[{"name":"Princess Al\u2010Jawhara Albrahim Centre of Excellence in Research of Hereditary Disorders King Abdulaziz University  Jeddah Saudi Arabia"},{"name":"Medical Genetics and Molecular Biology Unit Biochemistry Department Institute of Basic Medical Sciences, Khyber Medical University  Peshawar Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mona M.","family":"Almramhi","sequence":"additional","affiliation":[{"name":"Princess Al\u2010Jawhara Albrahim Centre of Excellence in Research of Hereditary Disorders King Abdulaziz University  Jeddah Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hussein S.A.","family":"Mohamoud","sequence":"additional","affiliation":[{"name":"Princess Al\u2010Jawhara Albrahim Centre of Excellence in Research of Hereditary Disorders King Abdulaziz University  Jeddah Saudi Arabia"},{"name":"Human Genetics Research Centre Division of Biomedical Sciences, St. George's University of London  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saleem","family":"Ahmed","sequence":"additional","affiliation":[{"name":"Princess Al\u2010Jawhara Albrahim Centre of Excellence in Research of Hereditary Disorders King Abdulaziz University  Jeddah Saudi Arabia"},{"name":"Department of Genetic Medicine Faculty of Medicine, King Abdulaziz University  Jeddah Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yaser M.","family":"Alkhiary","sequence":"additional","affiliation":[{"name":"Oral and Maxillofacial Prosthodontics Department Faculty of Dentistry, King Abdulaziz University  Jeddah Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jianguo","family":"Zhang","sequence":"additional","affiliation":[{"name":"BGI\u2010Shenzhen  Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huanming","family":"Yang","sequence":"additional","affiliation":[{"name":"Princess Al\u2010Jawhara Albrahim Centre of Excellence in Research of Hereditary Disorders King Abdulaziz University  Jeddah Saudi Arabia"},{"name":"BGI\u2010Shenzhen  Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jumana Y.","family":"Al\u2010Aama","sequence":"additional","affiliation":[{"name":"Princess Al\u2010Jawhara Albrahim Centre of Excellence in Research of Hereditary Disorders King Abdulaziz University  Jeddah Saudi Arabia"},{"name":"Department of Genetic Medicine Faculty of Medicine, King Abdulaziz University  Jeddah Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,6,23]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-1053"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0593-62"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.91.9.3549"},{"key":"e_1_2_9_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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