{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,21]],"date-time":"2025-11-21T17:36:47Z","timestamp":1763746607897},"reference-count":22,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2007,1,26]],"date-time":"2007-01-26T00:00:00Z","timestamp":1169769600000},"content-version":"vor","delay-in-days":56,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of the New York Academy of Sciences"],"published-print":{"date-parts":[[2006,12]]},"abstract":"<jats:p><jats:bold><jats:sc>Abstract:\u2002<\/jats:sc><\/jats:bold>  <jats:bold>Rett syndrome (RTT) is an X\u2010linked dominant neurodevelopmental disorder almost exclusively affecting females and is usually sporadic. Mutations in <jats:italic>MECP2<\/jats:italic> gene have been found in more than 80% of females with typical features of RTT. In this study, we analyzed 15 sporadic cases of RTT. In 7 of 15 patients (47%), we detected pathogenic mutations in the coding parts of <jats:italic>MECP2<\/jats:italic> fourth exon. We found two missense (T158M, R133C), two nonsense (R168X, R270X), two frameshift mutations (P217fs and a double deletion of 28\u2010bp at 1132\u20131159 and 10\u2010bp at 1167\u20131176), and one in\u2010frame deletion (L383_E392del10). To our knowledge, the last two mutations have not been reported yet. We also detected one previously described polymorphism (S194S). In conclusion, these results show that the fourth exon should be the first one analyzed because it harbors most of the known mutations. Moreover, mutation\u2010negative cases should be further analyzed for gross rearrangements. This is the first study of its kind in Croatia and it enabled us to give the patients an early confirmation of RTT diagnosis.<\/jats:bold> <\/jats:p>","DOI":"10.1196\/annals.1378.069","type":"journal-article","created":{"date-parts":[[2007,3,6]],"date-time":"2007-03-06T18:27:35Z","timestamp":1173205655000},"page":"225-232","source":"Crossref","is-referenced-by-count":4,"title":["The <i>MECP2<\/i> Gene Mutation Screening in Rett Syndrome Patients from Croatia"],"prefix":"10.1111","volume":"1091","author":[{"given":"TANJA","family":"MATIJEVI\u0106","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"JELENA","family":"KNE\u017dEVI\u0106","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"INGEBORG","family":"BARI\u0160I\u0106","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"BISERKA","family":"RE\u0160I\u0106","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"VIDA","family":"\u010cULI\u0106","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"JASMINKA","family":"PAVELI\u0106","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,1,26]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/13810"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(01)00342-4"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1089\/109065702760093843"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(01)00343-6"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(200005)47:5<670::AID-ANA20>3.0.CO;2-F"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9069"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.4.250"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200827"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1053\/ejpn.2002.0612"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1017\/S0317167100004200"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.026237"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1086\/426460"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1086\/426462"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi198"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1086446"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.033464"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1086\/302690"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.9.1369"},{"key":"e_1_2_6_20_2","unstructured":"Rett BASE: IRSA MECP2 Variation Database. 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