{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T22:43:12Z","timestamp":1790462592814,"version":"4.1.0"},"reference-count":0,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2009,2,1]],"date-time":"2009-02-01T00:00:00Z","timestamp":1233446400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genetic Testing and Molecular Biomarkers"],"published-print":{"date-parts":[[2009,2,1]]},"abstract":"<jats:p>\n                    Patients with classical Rett show an apparently normal psychomotor development during the first 6-18 months of life. Thereafter, they enter a short period of developmental stagnation followed by a rapid regression in language and motor development. Purposeful hand use is often lost and replaced by repetitive, stereotypic movements. Rett syndrome (RTT) is an X-linked dominant disorder caused frequently by mutations in the methyl-CpG-binding protein 2 gene (\n                    <jats:italic toggle=\"yes\">MECP2<\/jats:italic>\n                    ). The aim of this study was to search for mutations in\n                    <jats:italic toggle=\"yes\">MECP2<\/jats:italic>\n                    gene in two Tunisian patients affected with RTT. The results of mutation analysis revealed mutations in exon 4 of\n                    <jats:italic toggle=\"yes\">MECP2<\/jats:italic>\n                    gene in the two patients. In one patient we identified a new mutation consisting of a deletion of four bases (c.810-813delAAAG), which led to a frame shift and generated a premature stop codon (p.Lys271Arg fs X15) in transcriptional repression domain-nuclear localization signal (TRD-NLS) domain of MeCP2 protein. With regard to the second patient, a previously described transition (c.916C\u2009&gt;\u2009T) that changed an arginine to a cysteine residue (p.R306C) in TRD domain of MeCP2 protein was revealed. In conclusion, a new and a known\n                    <jats:italic toggle=\"yes\">de novo<\/jats:italic>\n                    mutation in\n                    <jats:italic toggle=\"yes\">MECP2<\/jats:italic>\n                    gene were revealed in two Tunisian patients affected with RTT.\n                  <\/jats:p>","DOI":"10.1089\/gtmb.2008.0076","type":"journal-article","created":{"date-parts":[[2009,2,25]],"date-time":"2009-02-25T08:02:08Z","timestamp":1235548928000},"page":"109-113","source":"Crossref","is-referenced-by-count":14,"title":["A Novel\n                    <i>MECP2<\/i>\n                    Gene Mutation in a Tunisian Patient with Rett Syndrome"],"prefix":"10.1177","volume":"13","author":[{"given":"Nourh\u00e8ne","family":"Fendri-Kriaa","sequence":"first","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine de Sfax","place":["Tunisia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zaineb","family":"Abdelkafi","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine de Sfax","place":["Tunisia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Imen Ben","family":"Rebeh","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine de Sfax","place":["Tunisia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatma","family":"Kamoun","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine de Sfax","place":["Tunisia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chahnez","family":"Triki","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine de Sfax","place":["Tunisia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Faiza","family":"Fakhfakh","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine de Sfax","place":["Tunisia"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2009,2,9]]},"container-title":["Genetic Testing and Molecular Biomarkers"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/gtmb.2008.0076","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/gtmb.2008.0076","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T07:21:21Z","timestamp":1777447281000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1089\/gtmb.2008.0076"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,2,1]]},"references-count":0,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2009,2,1]]}},"alternative-id":["10.1089\/gtmb.2008.0076"],"URL":"https:\/\/doi.org\/10.1089\/gtmb.2008.0076","relation":{},"ISSN":["1945-0265","1945-0257"],"issn-type":[{"value":"1945-0265","type":"print"},{"value":"1945-0257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,2,1]]}}}