{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:06:39Z","timestamp":1761717999739},"reference-count":24,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2006,7,7]],"date-time":"2006-07-07T00:00:00Z","timestamp":1152230400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2006,8]]},"abstract":"<jats:p>Rett syndrome (RTT) is an X\u2010linked progressive encephalopathy. Mutations in the<jats:italic> MECP2 <\/jats:italic>(methyl\u2010CpG\u2010binding protein) gene have been found to cause RTT. In the past few years, the role of<jats:italic> MECP2 <\/jats:italic>mutations in patients with mental disorders other than RTT has been studied, finding that mutations in<jats:italic> MECP2 <\/jats:italic>also contribute to non\u2010syndromic entities. More recently, it has been demonstrated that RTT shares clinical features with those of Angelman syndrome, another neurodevelopmental disorder. These observations must be confirmed in a large series, to better understand the criteria needed for justifying a molecular test. Consequently, we have searched for<jats:italic> MECP2 <\/jats:italic>mutations in 294 patients (43 Angelman and Prader\u2013Willi like included) with mental retardation (MR) of unknown aetiology. We found six polymorphisms (three novel, three previously reported) in 10 patients, one novel unclassified silent change (p.V222V) in a man, and one causative mutation in a girl with MR. Once this case was clinically reviewed, the girl presented symptoms of atypical RTT. The mutation (p.Y141C) lies within the methyl\u2010binding domain, and has only been reported once in another atypical RTT. Our results show that the<jats:italic> MECP2 <\/jats:italic>mutations account for a low frequency (1\/416 chromosomes\u2003=\u20030.24%) among mentally retarded individuals, which imply that it is necessary to perform an exhaustive clinical examination of patients before determining whether analysis of<jats:italic> MECP2 <\/jats:italic>is required or not.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2006.00647.x","type":"journal-article","created":{"date-parts":[[2006,7,8]],"date-time":"2006-07-08T02:03:08Z","timestamp":1152324188000},"page":"140-144","source":"Crossref","is-referenced-by-count":14,"title":["Screening for<i> MECP2 <\/i>mutations in Spanish patients with an unexplained mental retardation"],"prefix":"10.1111","volume":"70","author":[{"given":"M\u2010I","family":"Tejada","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O","family":"Pe\u00f1agarikano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Rodriguez\u2010Revenga","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Martinez\u2010Bouzas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Garc\u00eda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"B\u00e1denas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Guitart","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Minguez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Garc\u00eda\u2010Alegr\u00eda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Sanz\u2010Parra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Beristain","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Mil\u00e1","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,7,7]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrg1501"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/13810"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410140412"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.55.8.1188"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1086\/303078"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.4.224"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201080"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0014-5793(00)01994-3"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.9.941"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200836"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.014480"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1086\/339553"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201399"},{"key":"e_1_2_6_15_2","first-page":"547","article-title":"Gene symbol: MECP2. 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