{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T23:12:20Z","timestamp":1790032340295,"version":"4.0.1"},"reference-count":20,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,12,18]],"date-time":"2017-12-18T00:00:00Z","timestamp":1513555200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acad Dermatol Venereol"],"published-print":{"date-parts":[[2018,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Little is known about xeroderma pigmentosum (<jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content>) in Himalayan countries.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>To describe clinical characteristics of <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content> in Nepal and investigate its genetic bases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This study was carried out on all consecutive patients referred for <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content> to a Nepalese tertiary referral centre in 2014\u20132015. Clinical data were collected using a standardized questionnaire. <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> was extracted from salivary samples, and next\u2010generation sequencing (<jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content>) was conducted using a panel covering all 8 known <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content> genes (classical <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content> (<jats:italic><jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content>\u2010A<\/jats:italic> to <jats:italic><jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content>\u2010G<\/jats:italic>) and <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content> variant) and a skin cancer modifier gene, the melanocortin 1 receptor gene (<jats:italic><jats:styled-content style=\"fixed-case\">MC<\/jats:styled-content>1R<\/jats:italic>).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Seventeen patients (median age: 15\u00a0years; range: 1\u201332) were included. Twelve had skin cancers (including a total of 8 squamous cell carcinomas, 60 basal cell carcinomas, ocular carcinomas requiring an orbital exenteration in 3 patients, but no melanoma). Fifteen patients carried the same homozygous non\u2010sense <jats:italic><jats:styled-content style=\"fixed-case\">XPC<\/jats:styled-content><\/jats:italic> mutation c.1243C&gt;T, p.R415X. A homozygous non\u2010sense <jats:italic><jats:styled-content style=\"fixed-case\">XPA<\/jats:styled-content><\/jats:italic> mutation (p.W235X) was found in the only patient with a history of early severe sunburn reaction and associated neurological symptoms. Associated genetic alterations included heterozygous missense variants in <jats:italic><jats:styled-content style=\"fixed-case\">XPD<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">ERCC<\/jats:styled-content>2<\/jats:italic> gene and the presence of <jats:italic><jats:styled-content style=\"fixed-case\">MC<\/jats:styled-content>1R<\/jats:italic> variant R163Q in 5 and 9 patients, respectively.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Although not previously reported, <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content> seems frequent in Nepal. Patients often presented with a very severe phenotype after a long history of excessive sun exposure without knowledge of the disease. Fifteen of 17 had the same p.R415X <jats:italic><jats:styled-content style=\"fixed-case\">XPC<\/jats:styled-content><\/jats:italic> mutation, which seems very specific of <jats:styled-content style=\"fixed-case\">XP<\/jats:styled-content> in Nepal, suggesting a founder effect. <jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content> analyses frequently revealed associated genetic alterations which could play a modifier role in the clinical expression of the disease.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jdv.14717","type":"journal-article","created":{"date-parts":[[2017,11,25]],"date-time":"2017-11-25T01:52:45Z","timestamp":1511574765000},"page":"832-839","source":"Crossref","is-referenced-by-count":13,"title":["Clinical and genetic characteristics of xeroderma pigmentosum in Nepal"],"prefix":"10.1111","volume":"32","author":[{"given":"P.","family":"Espi","sequence":"first","affiliation":[{"name":"Department of Dermatology Robert Debr\u00e9 Hospital Reims France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Parajuli","sequence":"additional","affiliation":[{"name":"Department of Dermatology Maharajgunj Medical Canpus Tribhuvan University Katmandu Nepal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Benfodda","sequence":"additional","affiliation":[{"name":"Department of Genetics Bichat Hospital Paris France"},{"name":"INSERM U976 Saint\u2010Louis Hospital Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.\u2010S.","family":"Lebre","sequence":"additional","affiliation":[{"name":"Department of Genetics Maison Blanche Hospital Reims France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"U.","family":"Paudel","sequence":"additional","affiliation":[{"name":"Department of Dermatology Maharajgunj Medical Canpus Tribhuvan University Katmandu Nepal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Grange","sequence":"additional","affiliation":[{"name":"Department of Dermatology Robert Debr\u00e9 Hospital Reims France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Grybek","sequence":"additional","affiliation":[{"name":"Department of Genetics Maison Blanche Hospital Reims France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Grange","sequence":"additional","affiliation":[{"name":"INSERM U1148 Bichat Hospital Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Soufir","sequence":"additional","affiliation":[{"name":"Department of Genetics Bichat Hospital Paris France"},{"name":"INSERM U976 Saint\u2010Louis Hospital Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Grange","sequence":"additional","affiliation":[{"name":"Department of Dermatology Robert Debr\u00e9 Hospital Reims France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,12,18]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-70"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.083022"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-80-2-221"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mrfmmm.2006.06.010"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.dnarep.2008.01.014"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2009.409"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/exd.13082"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1519444113"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2011.426"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0300-9084(01)01358-X"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12335796"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2004.05938.x"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.4103\/0378-6323.148559"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1159\/000354584"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2133.1998.02039.x"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.13429"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2015.12.031"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/carcin\/bgi204"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/bjc.2015.231"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.15084"}],"container-title":["Journal of the European Academy of Dermatology and Venereology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fjdv.14717","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jdv.14717","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,18]],"date-time":"2023-09-18T03:25:22Z","timestamp":1695007522000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jdv.14717"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,12,18]]},"references-count":20,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2018,5]]}},"alternative-id":["10.1111\/jdv.14717"],"URL":"https:\/\/doi.org\/10.1111\/jdv.14717","archive":["Portico"],"relation":{},"ISSN":["0926-9959","1468-3083"],"issn-type":[{"value":"0926-9959","type":"print"},{"value":"1468-3083","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,12,18]]}}}