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It mainly affects males, and females can be affected or asymptomatic carriers. Rett syndrome (RTT) is mainly triggered by loss of function mutations in\n                    <jats:italic>MECP2<\/jats:italic>\n                    and is a well described syndrome that presents ID, epilepsy, lack of purposeful hand use and impaired speech, among others. As a result of implementing omics technology, altered biological pathways in human RTT samples have been reported, but such molecular characterisation has not been performed in patients with MDS. We gathered human skin fibroblasts from 17 patients with MDS, 10\n                    <jats:italic>MECP2<\/jats:italic>\n                    duplication carrier mothers and 21 patients with RTT, and performed multi\u2010omics (RNAseq and proteomics) analysis. Here, we provide a thorough description and compare the shared and specific dysregulated biological processes between the cohorts. We also highlight the genes\n                    <jats:italic>TMOD2, SRGAP1, COPS2<\/jats:italic>\n                    ,\n                    <jats:italic>CNPY2<\/jats:italic>\n                    ,\n                    <jats:italic>IGF2BP1, MOB2, VASP, FZD7, ECSIT and KIF3B<\/jats:italic>\n                    as biomarker and therapeutic target candidates due to their implication in neuronal functions. Defining the RNA and protein profiles has shown that our four cohorts are less alike than expected by their shared phenotypes.\n                  <\/jats:p>","DOI":"10.1111\/ejn.16389","type":"journal-article","created":{"date-parts":[[2024,5,15]],"date-time":"2024-05-15T03:47:35Z","timestamp":1715744855000},"page":"4004-4018","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Multi\u2010omics in\n                    <i>MECP2<\/i>\n                    duplication syndrome patients and carriers"],"prefix":"10.1111","volume":"60","author":[{"given":"Ainhoa","family":"Pascual\u2010Alonso","sequence":"first","affiliation":[{"name":"Fundaci\u00f3 per la Recerca Sant Joan de D\u00e9u  Esplugues de Llobregat Spain"},{"name":"Institut de Recerca Sant Joan de D\u00e9u  Esplugues de Llobregat Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clara","family":"Xiol","sequence":"additional","affiliation":[{"name":"Fundaci\u00f3 per la Recerca Sant Joan de D\u00e9u  Esplugues de Llobregat Spain"},{"name":"Institut de Recerca Sant Joan de D\u00e9u  Esplugues de Llobregat Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dmitrii","family":"Smirnov","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Technical University of Munich  Munich Germany"},{"name":"Institute of Neurogenomics Helmholtz Zentrum M\u00fcnchen  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rober","family":"Kopajtich","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Technical University of Munich  Munich Germany"},{"name":"Institute of Neurogenomics Helmholtz Zentrum M\u00fcnchen  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holger","family":"Prokisch","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Technical University of Munich  Munich Germany"},{"name":"Institute of Neurogenomics Helmholtz Zentrum M\u00fcnchen  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0588-9307","authenticated-orcid":false,"given":"Judith","family":"Armstrong","sequence":"additional","affiliation":[{"name":"Institut de Recerca Sant Joan de D\u00e9u  Esplugues de Llobregat Spain"},{"name":"Instituto de Salud Carlos III (ISCIII) CIBER\u2010ER (Biomedical Network Research Center for Rare Diseases)  Madrid Spain"},{"name":"Genomic Unit Molecular and Genetic Medicine Section Hospital Sant Joan de D\u00e9u  Esplugues de Llobregat Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,5,15]]},"reference":[{"key":"e_1_2_12_2_1","first-page":"1229","article-title":"Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen\u2010receptor gene correlates with X chromosome inactivation","volume":"51","author":"Allen R. 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