{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,5]],"date-time":"2025-06-05T20:06:52Z","timestamp":1749154012763},"reference-count":9,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,4]]},"abstract":"Dystrophic epidermolysis bullosa is a major form of epidermolysis bullosa and may be inherited as an autosomal dominant or recessive trait, with associated mutations in the COL7A1<\/jats:italic> gene. Here, we describe a consanguineous Pakistani family with four affected individuals suffering from recessive dystrophic epidermolysis bullosa. Exome sequencing of the proband\u2019s DNA revealed a homozygous missense variant (c.8038G>A:p.Gly2680Ser) in COL7A1<\/jats:italic> which cosegregated with disease in the family. The emergence of this particular glycine substitution in patients from diverse ethnic backgrounds such as China, United Kingdom, Poland, Iran, and Pakistan indicates that this variant most likely constitutes a recurrent mutational hotspot in the COL7A1<\/jats:italic> gene, rather than a germline mutation present at low levels in the general population.<\/jats:p>","DOI":"10.1097\/mcd.0000000000000299","type":"journal-article","created":{"date-parts":[[2019,10,20]],"date-time":"2019-10-20T17:46:20Z","timestamp":1571593580000},"page":"86-89","source":"Crossref","is-referenced-by-count":3,"title":["Whole-exome sequencing in a consanguineous Pakistani family identifies a mutational hotspot in the COL7A1 gene, causing recessive dystrophic epidermolysis bullosa"],"prefix":"10.1097","volume":"29","author":[{"given":"Atta Ur","family":"Rehman","sequence":"first","affiliation":[{"name":"Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Virginie G.","family":"Peter","sequence":"additional","affiliation":[{"name":"Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mathieu","family":"Quinodoz","sequence":"additional","affiliation":[{"name":"Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad","family":"Dawood","sequence":"additional","affiliation":[{"name":"Department of Dermatology, District Headquarter Hospital Khar, District Bajaur, Khyber Pakhtunkhwa, Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlo","family":"Rivolta","sequence":"additional","affiliation":[{"name":"Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Switzerland"},{"name":"Department of Genetics and Genome Biology, University of Leicester, Leicester, United Kingdom"},{"name":"Clinical Research Center, Institute of Molecular and Clinical Ophthalmology Basel (IOB)"},{"name":"Department of Ophthalmology, University Hospital Basel, Basel, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","reference":[{"key":"R1-20230913","doi-asserted-by":"crossref","first-page":"262","DOI":"10.2340\/00015555-1053","article-title":"Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.","volume":"91","author":"Almaani","year":"2011","journal-title":"Acta Derm Venereol"},{"key":"R2-20230913","doi-asserted-by":"crossref","first-page":"1231","DOI":"10.1001\/jamadermatol.2016.2473","article-title":"Epidemiology of inherited epidermolysis bullosa based on incidence and prevalence estimates from the national epidermolysis bullosa registry.","volume":"152","author":"Fine","year":"2016","journal-title":"JAMA Dermatol"},{"key":"R3-20230913","doi-asserted-by":"crossref","first-page":"e94","DOI":"10.1111\/pde.13367","article-title":"Identical COL71A1 heterozygous mutations resulting in different dystrophic epidermolysis bullosa phenotypes.","volume":"35","author":"Kn\u00f6pfel","year":"2018","journal-title":"Pediatr Dermatol"},{"key":"R4-20230913","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60,706 humans.","volume":"536","author":"Lek","year":"2016","journal-title":"Nature"},{"key":"R5-20230913","doi-asserted-by":"crossref","first-page":"658","DOI":"10.5021\/ad.2015.27.6.658","article-title":"Recently identified forms of epidermolysis bullosa.","volume":"27","author":"McGrath","year":"2015","journal-title":"Ann 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Sci"},{"key":"R10-20230913","doi-asserted-by":"crossref","first-page":"1624","DOI":"10.1111\/bjd.15221","article-title":"Development of a clinical diagnostic matrix for characterizing inherited epidermolysis bullosa.","volume":"176","author":"Yenamandra","year":"2017","journal-title":"Br J Dermatol"}],"container-title":["Clinical 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