{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:05:43Z","timestamp":1761717943741,"version":"3.37.3"},"reference-count":29,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2004,12,2]],"date-time":"2004-12-02T00:00:00Z","timestamp":1101945600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002341","name":"Academy of Finland","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100002341","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100004212","name":"P\u00e4ivikki and Sakari Sohlberg Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100004212","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100003756","name":"Biomedicum Helsinki Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100003756","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2005,1,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in the methyl\u2010CpG\u2010binding protein 2 (<jats:italic>MECP2<\/jats:italic>) gene are known to underlie Rett' syndrome, the most common cause of mental retardation (MR) in girls. Since the original report, phenotypes resulting from <jats:italic>MECP2<\/jats:italic> mutations have been shown to extend, for example, to several Rett variants, autism, atypical Angelman syndrome, and nonspecific MR. It was earlier proposed that <jats:italic>MECP2<\/jats:italic> mutations might account for \u223c2% of the male cases with nonspecific MR. Thereby, the frequency of <jats:italic>MECP2<\/jats:italic> mutations in the mentally retarded population would be comparable to that of Fragile\u2010X syndrome. The aim of this study was to analyze well\u2010characterized cases with MR and to clarify the role of the <jats:italic>MECP2<\/jats:italic> gene in the etiology of MR and atypical Angelman syndrome. The coding sequence of the <jats:italic>MECP2<\/jats:italic> gene was analyzed in a sample of 118 patients (103 males, 15 females) by direct sequencing. Two coding sequence variants, 602C\u2009&gt;\u2009T (A201V) and 1189G\u2009&gt;\u2009A (E397K), were identified. In addition, we identified four variants in the intronic or 3\u2032UTR regions. None of these variants is likely to be causal. We conclude that the evidence across all the mutation screening studies implies that <jats:italic>MECP2<\/jats:italic> mutations do not represent a major cause of nonspecific MR. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30416","type":"journal-article","created":{"date-parts":[[2004,12,2]],"date-time":"2004-12-02T23:47:27Z","timestamp":1102031247000},"page":"121-124","source":"Crossref","is-referenced-by-count":26,"title":["<i>MECP2<\/i> mutation analysis in patients with mental retardation"],"prefix":"10.1002","volume":"132A","author":[{"given":"Tero","family":"Ylisaukko\u2010oja","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karola","family":"Rehnstr\u00f6m","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raija","family":"Vanhala","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elli","family":"Kempas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harriet","family":"von Koskull","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carola","family":"Tengstr\u00f6m","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aki","family":"Mustonen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katrin","family":"\u00d5unap","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaana","family":"L\u00e4hdetie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irma","family":"J\u00e4rvel\u00e4","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,12,2]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s100380070032"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/13810"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.56.5.611"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0786-3"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.2165\/00066982-200307010-00002"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/316913"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(02)00624-0"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10194"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1176\/appi.ajp.159.1.148-a"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.9.941"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.8.610"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/561"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1086\/339553"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201080"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.7.487"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.3"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.8.586"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.12.e41"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(92)90610-O"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200761"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1090-3798(02)00134-4"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/30764"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1162"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0014-5793(00)01994-3"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1086\/345360"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1086\/302690"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.4.224"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10130"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200836"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.30416","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30416","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T16:20:15Z","timestamp":1697646015000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30416"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,12,2]]},"references-count":29,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2005,1,15]]}},"alternative-id":["10.1002\/ajmg.a.30416"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30416","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2004,12,2]]}}}