{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T15:49:05Z","timestamp":1764172145841},"reference-count":22,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,8,10]],"date-time":"2015-08-10T00:00:00Z","timestamp":1439164800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Intl J of Devlp Neuroscience"],"published-print":{"date-parts":[[2015,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Rett syndrome is a neurodevelopmental disorder caused by mutations in the <jats:italic>MECP2<\/jats:italic> gene. We investigated the genetic basis of disease in a female patient with a Rett\u2010like clinical. Karyotype analysis revealed a pericentric inversion in the X chromosome \u221246,X,inv(X)(p22.1q28), with breakpoints in the cytobands where the <jats:italic>MECP2<\/jats:italic> and <jats:italic>CDKL5<\/jats:italic> genes are located. FISH analysis revealed that the <jats:italic>MECP2<\/jats:italic> gene is not dislocated by the inversion. However, and in spite of a balanced pattern of X inactivation, this patient displayed hypomethylation and an overexpression of the <jats:italic>MECP2<\/jats:italic> gene at the mRNA level in the lymphocytes (mean fold change: 2.55 \u00b1 0.38) in comparison to a group of control individuals; the expression of the <jats:italic>CDKL5<\/jats:italic> gene was similar to that of controls (mean fold change: 0.98 \u00b1 0.10). No gains or losses were detected in the breakpoint regions encompassing known or suspected transcription regulatory elements. We propose that the de\u2010regulation of <jats:italic>MECP2<\/jats:italic> expression in this patient may be due to alterations in long\u2010range genomic interactions caused by the inversion and hypothesize that this type of epigenetic de\u2010regulation of the <jats:italic>MECP2<\/jats:italic> may be present in other RTT\u2010like patients.<\/jats:p>","DOI":"10.1016\/j.ijdevneu.2015.07.010","type":"journal-article","created":{"date-parts":[[2015,8,11]],"date-time":"2015-08-11T01:01:05Z","timestamp":1439254865000},"page":"82-87","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Variant Rett syndrome in a girl with a pericentric X\u2010chromosome inversion leading to epigenetic changes and overexpression of the <i>MECP2<\/i> gene"],"prefix":"10.1002","volume":"46","author":[{"given":"Jos\u00e9 Pedro","family":"Vieira","sequence":"first","affiliation":[{"name":"Neurology Department Hospital Dona Estef\u00e2nia Centro Hospitalar de Lisboa Central Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F\u00e1tima","family":"Lopes","sequence":"additional","affiliation":[{"name":"Life and Health Sciences Research Institute (ICVS) School of Health Sciences University of Minho Braga Portugal"},{"name":"ICVS\/3B's \u2013 PT Government Associate Laboratory Braga Guimar\u00e3es Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anabela","family":"Silva\u2010Fernandes","sequence":"additional","affiliation":[{"name":"Life and Health Sciences Research Institute (ICVS) School of Health Sciences University of Minho Braga Portugal"},{"name":"ICVS\/3B's \u2013 PT Government Associate Laboratory Braga Guimar\u00e3es Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria V\u00e2nia","family":"Sousa","sequence":"additional","affiliation":[{"name":"Neurology Department Hospital Dona Estef\u00e2nia Centro Hospitalar de Lisboa Central Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sofia","family":"Moura","sequence":"additional","affiliation":[{"name":"Life and Health Sciences Research Institute (ICVS) School of Health Sciences University of Minho Braga Portugal"},{"name":"ICVS\/3B's \u2013 PT Government Associate Laboratory Braga Guimar\u00e3es Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susana","family":"Sousa","sequence":"additional","affiliation":[{"name":"Life and Health Sciences Research Institute (ICVS) School of Health Sciences University of Minho Braga Portugal"},{"name":"ICVS\/3B's \u2013 PT Government Associate Laboratory Braga Guimar\u00e3es Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruno M.","family":"Costa","sequence":"additional","affiliation":[{"name":"Life and Health Sciences Research Institute (ICVS) School of Health Sciences University of Minho Braga Portugal"},{"name":"ICVS\/3B's \u2013 PT Government Associate Laboratory Braga Guimar\u00e3es Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mafalda","family":"Barbosa","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences The Mindich Child Health &amp; Development Institute The Seaver Autism Center for Research and Treatment Icahn School of Medicine at Mount Sinai Mount Sinai NY USA"},{"name":"Instituto Gulbenkian de Ci\u00eancia Oeiras Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bauke","family":"Ylstra","sequence":"additional","affiliation":[{"name":"Department of Pathology VU University Medical Center Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teresa","family":"Temudo","sequence":"additional","affiliation":[{"name":"Neuropediatrics Department Centro Hospitalar do Porto Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teresa","family":"Louren\u00e7o","sequence":"additional","affiliation":[{"name":"Neurology Department Hospital Dona Estef\u00e2nia Centro Hospitalar de Lisboa Central Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patr\u00edcia","family":"Maciel","sequence":"additional","affiliation":[{"name":"Life and Health Sciences Research Institute (ICVS) School of Health Sciences University of Minho Braga Portugal"},{"name":"ICVS\/3B's \u2013 PT Government Associate Laboratory Braga Guimar\u00e3es Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,8,10]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/13810"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20065"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2012.02.009"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.20605"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh282"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410140412"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(94)90082-5"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1053\/ejpn.2002.0612"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/labinvest.3700209"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.56.11.1486"},{"key":"e_1_2_6_12_1","first-page":"70","article-title":"Optimising restriction enzyme cleavage of DNA derived from archival histopathological samples: an improved HUMARA assay","volume":"35","author":"Jovanovic L.","year":"2003","journal-title":"Pathology (Phila.)"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature13200"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01371.x"},{"key":"e_1_2_6_15_1","doi-asserted-by":"crossref","first-page":"28","DOI":"10.3389\/fgene.2014.00028","article-title":"Mechanisms and proteins involved in long\u2010distance interactions","volume":"5","author":"Maksimenko O.","year":"2014","journal-title":"Front. 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