{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:35:08Z","timestamp":1761708908465,"version":"3.40.4"},"reference-count":10,"publisher":"S. Karger AG","issue":"5","license":[{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Public Health Genomics"],"published-print":{"date-parts":[[2013]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Aims:&lt;\/i&gt;&lt;\/b&gt;&lt;i&gt; Xeroderma pigmentosum&lt;\/i&gt; (XP, OMIM 278700-278780) is one of the most severe genodermatoses and is relatively frequent in Tunisia. In the absence of any therapy and to better manage the disease, we aimed to develop a molecular tool for DNA-based prenatal diagnosis. &lt;b&gt;&lt;i&gt;Methods:&lt;\/i&gt;&lt;\/b&gt; Six consanguineous Tunisian XP families (4 XP-A and 2 XP-C) have benefited from a prenatal diagnosis. Screening for mutations was performed by direct sequencing, while maternal-foetal contamination was checked by genotyping. &lt;b&gt;&lt;i&gt;Results:&lt;\/i&gt;&lt;\/b&gt; Among the 7 prenatal diagnoses, 4 foetuses were heterozygous for the screened mutation. Exclusion of contamination by maternal cells was checked. Mutations were detected at a homozygous state in the remaining cases, and the parents decided to terminate pregnancy. &lt;b&gt;&lt;i&gt;Conclusion:&lt;\/i&gt;&lt;\/b&gt; Our study illustrates the implementation of prenatal diagnosis for better health support of XP in Tunisia.<\/jats:p>","DOI":"10.1159\/000354584","type":"journal-article","created":{"date-parts":[[2013,9,9]],"date-time":"2013-09-09T08:41:20Z","timestamp":1378716080000},"page":"251-254","source":"Crossref","is-referenced-by-count":9,"title":["The Experience of a Tunisian Referral Centre in Prenatal Diagnosis of &lt;b&gt;&lt;i&gt;Xeroderma pigmentosum&lt;\/i&gt;&lt;\/b&gt;"],"prefix":"10.1159","volume":"16","author":[{"given":"O.","family":"Messaoud","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Ben Rekaya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Jerbi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Ouertani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Kefi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Laroussi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.","family":"Bouyacoub","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Benfadhel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Yacoub-Youssef","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Boubaker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Zghal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Mrad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Amouri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Abdelhak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2013,9,7]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1093\/carcin\/21.3.453"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/S0300-9084(01)01358-X"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2009.50"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-4632.2010.04421.x"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2010.09646.x"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1007\/s00403-011-1190-4"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.3.1215"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1111\/j.1346-8138.2011.01425.x"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33771"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12332692"}],"container-title":["Public Health Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/354584","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/354584","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:46:48Z","timestamp":1745434008000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000354584"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013]]},"references-count":10,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2013,10,1]]},"published-print":{"date-parts":[[2013,10,3]]}},"URL":"https:\/\/doi.org\/10.1159\/000354584","archive":["Portico"],"relation":{},"ISSN":["1662-4246","1662-8063"],"issn-type":[{"type":"print","value":"1662-4246"},{"type":"electronic","value":"1662-8063"}],"subject":[],"published":{"date-parts":[[2013]]}}}