{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T23:08:20Z","timestamp":1792796900043,"version":"4.5.0"},"reference-count":147,"publisher":"MDPI AG","issue":"17","license":[{"start":{"date-parts":[[2021,9,4]],"date-time":"2021-09-04T00:00:00Z","timestamp":1630713600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI15\/01159"],"award-info":[{"award-number":["PI15\/01159"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI20\/00389"],"award-info":[{"award-number":["PI20\/00389"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Government of Catalonia (Secretaria d\u2019Universitats I Recerca) and the European Social Fund","award":["2020 FI-B 00888"],"award-info":[{"award-number":["2020 FI-B 00888"]}]},{"name":"S\u00edndrome duplicaci\u00f3n MECP2: Miradas que hablan\u201d","award":["PFNR0085"],"award-info":[{"award-number":["PFNR0085"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Methyl CpG binding protein 2 (MECP2) is located at Xq28 and is a multifunctional gene with ubiquitous expression. Loss-of-function mutations in MECP2 are associated with Rett syndrome (RTT), which is a well-characterized disorder that affects mainly females. In boys, however, mutations in MECP2 can generate a wide spectrum of clinical presentations that range from mild intellectual impairment to severe neonatal encephalopathy and premature death. Thus, males can be more difficult to classify and diagnose than classical RTT females. In addition, there are some variants of unknown significance in MECP2, which further complicate the diagnosis of these children. Conversely, the entire duplication of the MECP2 gene is related to MECP2 duplication syndrome (MDS). Unlike in RTT, in MDS, males are predominantly affected. Usually, the duplication is inherited from an apparently asymptomatic carrier mother. Both syndromes share some characteristics, but also differ in some aspects regarding the clinical picture and evolution. In the following review, we present a thorough description of the different types of MECP2 variants and alterations that can be found in males, and explore several genotype\u2013phenotype correlations, although there is still a lot to understand.<\/jats:p>","DOI":"10.3390\/ijms22179610","type":"journal-article","created":{"date-parts":[[2021,9,6]],"date-time":"2021-09-06T13:15:56Z","timestamp":1630934156000},"page":"9610","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":51,"title":["MECP2-Related Disorders in Males"],"prefix":"10.3390","volume":"22","author":[{"given":"Ainhoa","family":"Pascual-Alonso","sequence":"first","affiliation":[{"name":"Fundaci\u00f3 Per la Recerca Sant Joan de D\u00e9u, Santa Rosa 39-57, 08950 Esplugues de Llobregat, Spain"},{"name":"Institut de Recerca Sant Joan de D\u00e9u, Santa Rosa 39-57, 08950 Esplugues de Llobregat, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio F.","family":"Mart\u00ednez-Monseny","sequence":"additional","affiliation":[{"name":"Institut de Recerca Sant Joan de D\u00e9u, Santa Rosa 39-57, 08950 Esplugues de Llobregat, Spain"},{"name":"Clinical Genetics, Molecular and Genetic Medicine Section, Hospital Sant Joan de D\u00e9u, 08950 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, Santa Rosa 39-57, 08950 Esplugues de Llobregat, Spain"},{"name":"Institut de Recerca Sant Joan de D\u00e9u, Santa Rosa 39-57, 08950 Esplugues de Llobregat, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith","family":"Armstrong","sequence":"additional","affiliation":[{"name":"Institut de Recerca Sant Joan de D\u00e9u, Santa Rosa 39-57, 08950 Esplugues de Llobregat, Spain"},{"name":"Clinical Genetics, Molecular and Genetic Medicine Section, Hospital Sant Joan de D\u00e9u, 08950 Esplugues de Llobregat, Spain"},{"name":"CIBER-ER (Biomedical Network Research Center for Rare Diseases), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,9,4]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1177\/0883073807307077","article-title":"X chromosome inactivation in rett syndrome and Its correlations with mecp2 mutations and phenotype","volume":"23","author":"Xinhua","year":"2008","journal-title":"J. Child Neurol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1038\/ng1327","article-title":"A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome","volume":"36","author":"Mnatzakanian","year":"2004","journal-title":"Nat. Genet."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"2846","DOI":"10.1523\/JNEUROSCI.5841-11.2012","article-title":"Isoform-specific toxicity of MeCP2 in postmitotic neurons: Suppression of neurotoxicity by FoxG1","volume":"32","author":"Dastidar","year":"2012","journal-title":"J. Neurosci."},{"key":"ref_4","doi-asserted-by":"crossref","unstructured":"Olson, C.O., Zachariah, R.M., Ezeonwuka, C.D., Liyanage, V.R.B., and Rastegar, M. (2014). Brain region-specific expression of MeCP2 isoforms correlates with DNA methylation within Mecp2 regulatory elements. PLoS ONE, 9.","DOI":"10.1371\/journal.pone.0090645"},{"key":"ref_5","first-page":"1","article-title":"MeCP2-E1 isoform is a dynamically expressed, weakly DNA-bound protein with different protein and DNA interactions compared to MeCP2-E2","volume":"12","author":"Khajavi","year":"2019","journal-title":"Epigenetics Chromatin"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"898","DOI":"10.1038\/nn.3434","article-title":"Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR\/SMRT co-repressor","volume":"16","author":"Lyst","year":"2013","journal-title":"Nat. Neurosci."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"30","DOI":"10.21307\/ane-2018-007","article-title":"MeCP2 in central nervous system glial cells: Current updates","volume":"78","author":"Sharma","year":"2018","journal-title":"Acta Neurobiol. Exp."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1016\/S1474-4422(20)30217-9","article-title":"Advances in understanding of Rett syndrome and MECP2 duplication syndrome: Prospects for future therapies","volume":"19","author":"Sandweiss","year":"2020","journal-title":"Lancet Neurol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1602","DOI":"10.1016\/j.jmb.2019.10.004","article-title":"The molecular basis of MeCP2 function in the brain","volume":"432","author":"Tillotson","year":"2020","journal-title":"J. Mol. Biol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/j.neubiorev.2014.01.011","article-title":"Rett syndrome and the urge of novel approaches to study MeCP2 functions and mechanisms of action","volume":"46","author":"Bedogni","year":"2014","journal-title":"Neurosci. Biobehav. Rev."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"620859","DOI":"10.3389\/fgene.2021.620859","article-title":"MeCP2: The genetic driver of Rett syndrome epigenetics","volume":"12","author":"Good","year":"2021","journal-title":"Front. Genet."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1093\/hmg\/11.2.115","article-title":"Insight into Rett syndrome: MeCP2 levels display tissue-and cell-specific differences and correlate with neuronal maturation","volume":"11","author":"Shahbazian","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1016\/j.mcn.2004.07.006","article-title":"MECP2 is progressively expressed in post-migratory neurons and is involved in neuronal maturation rather than cell fate decisions","volume":"27","author":"Kishi","year":"2004","journal-title":"Mol. Cell. Neurosci."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1038\/13810","article-title":"Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2","volume":"23","author":"Amir","year":"1999","journal-title":"Nat. Genet."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"1520","DOI":"10.1086\/302690","article-title":"Rett Syndrome and beyond: Recurrent spontaneous and familial MECP2 mutations at CpG hotspots","volume":"65","author":"Wan","year":"1999","journal-title":"Am. J. Hum. Genet"},{"key":"ref_16","doi-asserted-by":"crossref","unstructured":"Armstrong, J., P\u00f3o, P., Pineda, M., Aibar, E., Ge\u00e1n, E., Catal\u00e0, V., and Nia Monr\u00f3s, E. (2001). Classic Rett syndrome in a Boy as a Result of Somatic Mosaicism for a MECP2 Mutation, Wiley-Liss.","DOI":"10.1002\/ana.1272"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1007\/s10048-002-0137-5","article-title":"De novo MECP2 mutation in a 46, XX male patient with Rett syndrome","volume":"4","author":"Maiwald","year":"2002","journal-title":"Neurogenetics"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1055\/s-2006-924613","article-title":"Male Rett phenotypes in T158M and R294X MeCP2-mutations","volume":"37","author":"Lundvall","year":"2006","journal-title":"Neuropediatrics"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1203\/PDR.0b013e3181d4ecf7","article-title":"Phenotypic and genotypic variability in four males with MECP2 gene sequence aberrations including a novel deletion","volume":"67","author":"Psoni","year":"2010","journal-title":"Pediatr. Res."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"1313","DOI":"10.1212\/01.wnl.0000291011.54508.aa","article-title":"Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome","volume":"70","author":"Neul","year":"2008","journal-title":"Neurology"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1186\/1866-1955-6-20","article-title":"Developmental delay in Rett syndrome: Data from the natural history study","volume":"6","author":"Neul","year":"2014","journal-title":"J. Neurodev. Disord."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1093\/hmg\/10.9.941","article-title":"MECP2 is highly mutated in X-linked mental retardation","volume":"10","author":"Couvert","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1038\/sj.ejhg.5200836","article-title":"Low frequency of MECP2 mutations in mentally retarded males","volume":"10","author":"Yntema","year":"2002","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_24","first-page":"3","article-title":"MECP2 mutations or polymorphisms in mentally retarded boys diagnostic implications","volume":"7","author":"Bourdon","year":"2003","journal-title":"Mol Diagn"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1016\/j.braindev.2005.10.007","article-title":"MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients","volume":"28","author":"Moog","year":"2006","journal-title":"Brain Dev."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"e5","DOI":"10.1136\/jmg.40.1.e5","article-title":"No correlation between phenotype and genotype in boys with a truncating MECP2 mutation","volume":"40","author":"Ravn","year":"2003","journal-title":"J Med Genet"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1002\/ajmg.10085","article-title":"In-frame deletion in MECP2 causes mild nonspecific mental retardation","volume":"107","author":"Yntema","year":"2002","journal-title":"Am. J. Med. Genet."},{"key":"ref_28","unstructured":"World Health Organization (International Statistical Classification of Disease and Related Health Problems, 1992). International Statistical Classification of Disease and Related Health Problems."},{"key":"ref_29","unstructured":"Barber, J.P., Connolly, M.B., Crits-Christoph, P., Gladis, L., and Siqueland, L. (1994). Diagnostic and Statistical Manual of Mental Disorders, American Psychiatric Pub. [4th ed.]."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1053\/ejpn.2002.0612","article-title":"An update on clinically applicable diagnostic criteria in Rett syndrome: Comments to Rett syndrome clinical criteria consensus panel satellite to European Paediatric Neurology Society Meeting Baden Baden, Germany, 11 September 2001","volume":"6","author":"Hagberg","year":"2002","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"944","DOI":"10.1002\/ana.22124","article-title":"Rett syndrome: Revised diagnostic criteria and nomenclature","volume":"68","author":"Neul","year":"2010","journal-title":"Ann. Neurol."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"S251","DOI":"10.1016\/S0387-7604(01)00374-6","article-title":"Rett syndrome in Spain: Mutation analysis and clinical correlations","volume":"23","author":"Armstrong","year":"2001","journal-title":"Brain Dev."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1016\/S0387-7604(01)00193-0","article-title":"Guidelines for reporting clinical features in cases with MECP2 mutations","volume":"23","author":"Kerr","year":"2001","journal-title":"Brain Dev."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1136\/adc.88.1.38","article-title":"Describing the phenotype in Rett syndrome using a population database","volume":"88","author":"Colvin","year":"2003","journal-title":"Arch. Dis. Child."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"732","DOI":"10.1177\/08830738050200090601","article-title":"Molecular diagnosis of Rett Syndrome","volume":"20","author":"Huppke","year":"2005","journal-title":"J. Child Neurol."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1016\/j.gde.2006.04.009","article-title":"MeCP2 dysfunction in Rett syndrome and related disorders","volume":"16","author":"Moretti","year":"2006","journal-title":"Curr. Opin. Genet. Dev."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1136\/jmg.2007.049452","article-title":"MECP2 mutations in males","volume":"44","author":"Villard","year":"2007","journal-title":"J. Med. Genet."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"253","DOI":"10.31887\/DCNS.2012.14.3\/jneul","article-title":"The relationship of Rett syndrome and MECP2 disorders to autism","volume":"14","author":"Neul","year":"2012","journal-title":"Dialogues Clin. Neurosci."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1016\/j.braindev.2004.10.002","article-title":"Classic Rett syndrome in a boy with R133C mutation of MECP2","volume":"27","author":"Masuyama","year":"2005","journal-title":"Brain Dev."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1002\/ajmg.b.32707","article-title":"The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2","volume":"180","author":"Neul","year":"2019","journal-title":"Am. J. Med. Genet. Part B Neuropsychiatr. Genet."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"1428","DOI":"10.1086\/316913","article-title":"Diagnostic testing for Rett Syndrome by DHPLC and direct sequencing analysis of the MECP2 Gene: Identification of several novel mutations and polymorphisms","volume":"67","author":"Buyse","year":"2000","journal-title":"Am. J. Hum. Genet"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1038\/jhg.2015.118","article-title":"MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability","volume":"61","author":"Bianciardi","year":"2016","journal-title":"J. Hum. Genet."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"618","DOI":"10.1016\/j.ajhg.2014.03.006","article-title":"De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability","volume":"94","author":"Grozeva","year":"2014","journal-title":"Am. J. Hum. Genet."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1016\/j.ejpn.2019.04.006","article-title":"The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome","volume":"23","author":"Vidal","year":"2019","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1111\/cge.13473","article-title":"Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements","volume":"95","author":"Bisgaard","year":"2019","journal-title":"Clin. Genet."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1002\/ajmg.a.20247","article-title":"MECP2 gene mutations in non-syndromic X-linked mental retardation: Phenotype-genotype correlation","volume":"123","author":"Gomot","year":"2003","journal-title":"Am. J. Med. Genet."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1038\/sj.ejhg.5201384","article-title":"Functional disomy of the Xq28 chromosome region","volume":"13","author":"Sanlaville","year":"2005","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_48","first-page":"243","article-title":"XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28","volume":"85","author":"Lubs","year":"1999","journal-title":"J. Med. Genet"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"e1687","DOI":"10.1542\/peds.2006-0395","article-title":"Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28","volume":"118","author":"Friez","year":"2006","journal-title":"Pediatrics"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"e12","DOI":"10.1136\/jmg.2004.023804","article-title":"Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome","volume":"42","author":"Meins","year":"2005","journal-title":"J. Med. Genet."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1086\/444549","article-title":"Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males","volume":"77","author":"Bauters","year":"2005","journal-title":"Am. J. Hum. Genet."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"2242","DOI":"10.1002\/ajmg.a.32399","article-title":"Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: A study of 5380 cases","volume":"146A","author":"Shao","year":"2008","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"1079","DOI":"10.1002\/ajmg.a.33184","article-title":"The MECP2 duplication syndrome","volume":"152A","author":"Ramocki","year":"2010","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1002\/humu.9482","article-title":"Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium","volume":"28","author":"Yntema","year":"2007","journal-title":"Hum. Mutat."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1038\/ejhg.2008.208","article-title":"Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy","volume":"17","author":"Lugtenberg","year":"2009","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"1292","DOI":"10.1002\/ajmg.a.35321","article-title":"The incidence of hypoplasia of the corpus callosum in patients with dup (X)(q28) involving MECP2 is associated with the location of distal breakpoints","volume":"158A","author":"Honda","year":"2012","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"784","DOI":"10.1097\/01.gim.0000250502.28516.3c","article-title":"Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males","volume":"8","author":"Fang","year":"2006","journal-title":"Genet. Med."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1007\/s12031-009-9296-2","article-title":"High frequency of nonrecurrent MECP2 duplications among Brazilian males with mental retardation","volume":"41","author":"Campos","year":"2010","journal-title":"J. Mol. Neurosci."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1136\/jmg.2005.036178","article-title":"Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH","volume":"43","author":"Lugtenberg","year":"2006","journal-title":"J. Med. Genet."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1136\/jmg.2005.032268","article-title":"Array-CGH detection of micro rearrangements in mentally retarded individuals: Clinical significance of imbalances present both in affected children and normal parents","volume":"43","author":"Rosenberg","year":"2006","journal-title":"J. Med. Genet."},{"key":"ref_61","doi-asserted-by":"crossref","unstructured":"Madrigal, I., Rodr\u00edguez-Revenga, L., Armengol, L., Gonz\u00e1lez, E., Rodriguez, B., Badenas, C., S\u00e1nchez, A., Mart\u00ednez, F., Guitart, M., and Fern\u00e1ndez, I. (2007). X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation. BMC Genom., 8.","DOI":"10.1186\/1471-2164-8-443"},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"847","DOI":"10.1101\/gr.075903.107","article-title":"Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair","volume":"18","author":"Bauters","year":"2008","journal-title":"Genome Res."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1002\/ajmg.b.30683","article-title":"Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections","volume":"147B","author":"Smyk","year":"2008","journal-title":"Am. J. Med. Genet. Part B Neuropsychiatr. Genet."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1097\/MCD.0b013e3283157cad","article-title":"De-novo 2.15 Mb terminal Xq duplication involving MECP2 but not L1CAM gene in a male patient with mental retardation","volume":"18","author":"Velinov","year":"2009","journal-title":"Clin. Dysmorphol."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1111\/j.1399-0004.2008.01102.x","article-title":"The clinical variability of the MECP2 duplication syndrome: Description of two families with duplications excluding L1CAM and FLNA","volume":"75","author":"Kirk","year":"2009","journal-title":"Clin. Genet."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/ejhg.2008.192","article-title":"Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance","volume":"17","author":"Walters","year":"2009","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1097\/MCD.0b013e32831e19cd","article-title":"Two brothers with a microduplication including the MECP2 gene: Rapid head growth in infancy and resolution of susceptibility to infection","volume":"18","author":"Prescott","year":"2009","journal-title":"Clin. Dysmorphol."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"2188","DOI":"10.1093\/hmg\/ddp151","article-title":"Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching","volume":"18","author":"Carvalho","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/j.pediatrneurol.2009.03.012","article-title":"Neurologic aspects of MECP2 gene duplication in male patients","volume":"41","author":"Echenne","year":"2009","journal-title":"Pediatr. Neurol."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1002\/ana.21715","article-title":"Autism and other neuropsychiatric symptoms are prevalent in individuals with MECP2 duplication syndrome","volume":"66","author":"Ramocki","year":"2009","journal-title":"Ann. Neurol."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"1591","DOI":"10.1002\/ajmg.a.33311","article-title":"MECP2 duplication in a patient with congenital central hypoventilation","volume":"152","author":"Belligni","year":"2010","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1002\/ajmg.a.33198","article-title":"Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplications","volume":"152","author":"Bartsch","year":"2010","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1007\/s00431-010-1144-4","article-title":"Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28","volume":"169","author":"Reardon","year":"2010","journal-title":"Eur. J. Pediatr."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1111\/j.1399-0004.2010.01371.x","article-title":"De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features","volume":"78","author":"Makrythanasis","year":"2010","journal-title":"Clin. Genet."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1038\/jhg.2010.74","article-title":"Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis","volume":"55","author":"Honda","year":"2010","journal-title":"J. Hum. Genet."},{"key":"ref_76","doi-asserted-by":"crossref","unstructured":"Fern\u00e1ndez, R.M., N\u00fa\u00f1ez-Torres, R., Gonz\u00e1lez-Meneses, A., Anti\u00f1olo, G., and Borrego, S. (2010). Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region. BMC Med. Genet., 11.","DOI":"10.1186\/1471-2350-11-137"},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1016\/j.pediatrneurol.2010.10.007","article-title":"Autosome translocation in a boy\u2014Delineation of the phenotype","volume":"44","author":"Ciara","year":"2011","journal-title":"Pediatr. Neurol."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1038\/ejhg.2010.195","article-title":"MECP2 duplications in six patients with complex sex chromosome rearrangements","volume":"19","author":"Breman","year":"2011","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1038\/ejhg.2010.226","article-title":"De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation","volume":"19","author":"Grasshoff","year":"2011","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1007\/s00787-011-0184-2","article-title":"Novel clinical finding in MECP2 duplication syndrome","volume":"20","author":"Budisteanu","year":"2011","journal-title":"Eur. Child Adolesc. Psychiatry"},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1159\/000330917","article-title":"De novo interstitial triplication of MECP2 in a girl with neurodevelopmental disorder and random X chromosome inactivation","volume":"135","author":"Mayo","year":"2011","journal-title":"Cytogenet. Genome Res."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"1074","DOI":"10.1038\/ng.944","article-title":"Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome","volume":"43","author":"Carvalho","year":"2011","journal-title":"Nat. Genet."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1159\/000334289","article-title":"Searching for copy number changes in nonsyndromic X-linked intellectual disability","volume":"2","author":"Utine","year":"2012","journal-title":"Mol. Syndromol."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/j.ejpn.2011.07.011","article-title":"MECP2 triplication in 3 brothers\u2014A rarely described cause of familial neurological regression in boys","volume":"16","author":"Tang","year":"2012","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1038\/jhg.2011.131","article-title":"Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation","volume":"57","author":"Honda","year":"2012","journal-title":"J. Hum. Genet."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1016\/j.ejmg.2012.02.009","article-title":"Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation","volume":"55","author":"Bijlsma","year":"2012","journal-title":"Eur. J. Med. Genet."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"1285","DOI":"10.1002\/ajmg.a.35347","article-title":"Characterization of six novel patients with MECP2 duplications due to unbalanced rearrangements of the X chromosome","volume":"158A","author":"Sanmann","year":"2012","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"1146","DOI":"10.1111\/j.1528-1167.2012.03501.x","article-title":"Electroclinical pattern in MECP2 duplication syndrome: Eight new reported cases and review of literature","volume":"53","author":"Vignoli","year":"2012","journal-title":"Epilepsia"},{"key":"ref_89","doi-asserted-by":"crossref","unstructured":"Xu, X., Xu, Q., Zhang, Y., Zhang, X., Cheng, T., Wu, B., Ding, Y., Lu, P., Zheng, J., and Zhang, M. (2012). A case report of Chinese brothers with inherited MECP2-containing duplication: Autism and intellectual disability, but not seizures or respiratory infections. BMC Med. Genet., 13.","DOI":"10.1186\/1471-2350-13-75"},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"163ra158","DOI":"10.1126\/scitranslmed.3004430","article-title":"Overexpression of methyl-CpG binding protein 2 impairs TH1 responses","volume":"4","author":"Yang","year":"2012","journal-title":"Sci. Transl. Med."},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1016\/j.braindev.2012.07.010","article-title":"MECP2 duplication syndrome in both genders","volume":"35","author":"Shimada","year":"2013","journal-title":"Brain Dev."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"1779","DOI":"10.1002\/ajmg.a.35975","article-title":"Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patients","volume":"161A","author":"Shimada","year":"2013","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1002\/jcu.22065","article-title":"Second-trimester prenasal and prefrontal skin thickening-Association with MECP2 triplication syndrome","volume":"41","author":"Wax","year":"2013","journal-title":"J. Clin. Ultrasound"},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"2484","DOI":"10.1007\/s10803-013-1796-9","article-title":"Brief report: Regression timing and associated features in MECP2 duplication syndrome","volume":"43","author":"Peters","year":"2013","journal-title":"J. Autism Dev. Disord."},{"key":"ref_95","first-page":"1029","article-title":"MECP2 duplication: Possible cause of severe phenotype in females","volume":"164A","author":"Laffin","year":"2014","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1186\/1755-8166-7-10","article-title":"MECP2 duplication phenotype in symptomatic females: Report of three further cases","volume":"7","author":"Novara","year":"2014","journal-title":"Mol. Cytogenet."},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"924","DOI":"10.1002\/ajmg.a.36373","article-title":"Clinical characterization and identification of duplication breakpoints in a Japanese family with Xq28 duplication syndrome including MECP2","volume":"164A","author":"Fukushi","year":"2014","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1007\/s10875-015-0129-5","article-title":"Infectious and immunologic phenotype of MECP2 Duplication syndrome","volume":"35","author":"Bauer","year":"2015","journal-title":"J. Clin. Immunol."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1038\/jhg.2014.124","article-title":"Detecting copy-number variations in whole-exome sequencing data using the exome hidden markov model: An \u201cexome-first\u201d approach","volume":"60","author":"Miyatake","year":"2015","journal-title":"J. Hum. Genet."},{"key":"ref_100","first-page":"790","article-title":"Hepatoblastoma in a male with MECP2 duplication syndrome","volume":"170A","author":"Martin","year":"2016","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_101","doi-asserted-by":"crossref","unstructured":"Zhang, Q., Zhao, Y., Yang, Y., and Bao, X. (2015). MECP2 duplication syndrome in a Chinese family. BMC Med. Genet., 16.","DOI":"10.1186\/s12881-015-0264-0"},{"key":"ref_102","first-page":"116","article-title":"Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients","volume":"170A","author":"Faivre","year":"2016","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1038\/mp.2015.128","article-title":"Altered neuronal network and rescue in a human MECP2 duplication model","volume":"21","author":"Nageshappa","year":"2016","journal-title":"Mol. Psychiatry"},{"key":"ref_104","doi-asserted-by":"crossref","unstructured":"Signorini, C., De Felice, C., Leoncini, S., M\u00f8ller, R.S., Zollo, G., Buoni, S., Cortelazzo, A., Guerranti, R., Durand, T., and Ciccoli, L. (2016). MECP2 duplication syndrome: Evidence of enhanced oxidative stress. A comparison with Rett syndrome. PLoS ONE, 11.","DOI":"10.1371\/journal.pone.0150101"},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1016\/j.ejmg.2016.05.004","article-title":"Chromosome Xq28 duplication encompassing MECP2: Clinical and molecular analysis of 16 new patients from 10 families in China","volume":"59","author":"Yi","year":"2016","journal-title":"Eur. J. Med. Genet."},{"key":"ref_106","doi-asserted-by":"crossref","unstructured":"San Antonio-Arce, V., Fenollar-Cort\u00e9s, M., Ionescu, R.O., DeSantos-Moreno, T., Gallego-Merlo, J., C\u00e1mara, F.J.I., and P\u00e9rez, M.C.O. (2016). MECP2 Duplications in symptomatic females. Child Neurol. Open, 3.","DOI":"10.1177\/2329048X16630673"},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1159\/000449222","article-title":"A case of MECP2 duplication syndrome with gonadotropin-dependent precocious puberty","volume":"87","author":"Matsuda","year":"2017","journal-title":"Horm. Res. Paediatr."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1186\/s13039-016-0286-0","article-title":"The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability","volume":"9","author":"Ha","year":"2016","journal-title":"Mol. Cytogenet."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1111\/cge.12814","article-title":"Expanding the clinical picture of the MECP2 Duplication syndrome","volume":"91","author":"Lim","year":"2017","journal-title":"Clin. Genet."},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1111\/cge.12898","article-title":"Xq28 duplication including MECP2 in six unreported affected females: What can we learn for diagnosis and genetic counselling?","volume":"91","author":"Touraine","year":"2017","journal-title":"Clin. Genet."},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1097\/MCD.0000000000000171","article-title":"Expansion of the phenotypic spectrum in three families of methyl CpG-binding protein 2 duplication syndrome","volume":"26","author":"Moirangthem","year":"2017","journal-title":"Clin. Dysmorphol."},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s12881-017-0394-7","article-title":"A sibship with duplication of Xq28 inherited from the mother; genomic characterization and clinical outcomes","volume":"18","author":"Yon","year":"2017","journal-title":"BMC Med. Genet."},{"key":"ref_113","doi-asserted-by":"crossref","unstructured":"Li, X., Xie, H., Chen, Q., Yu, X., Yi, Z., Li, E., Zhang, T., Wang, J., Zhong, J., and Chen, X. (2017). Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family. BMC Med. Genet., 18.","DOI":"10.1186\/s12881-017-0486-4"},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1002\/ajmg.a.38570","article-title":"Severe rhizomelic shortening in a child with a complex duplication\/deletion rearrangement of chromosome X","volume":"176A","author":"Deshwar","year":"2018","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1097\/INF.0000000000001799","article-title":"Antibiotic prophylaxis, immunoglobulin substitution and supportive measures prevent infections in MECP2 duplication syndrome","volume":"37","author":"Bauer","year":"2018","journal-title":"Pediatr. Infect. Dis. J."},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1136\/jmedgenet-2017-104956","article-title":"Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features","volume":"55","author":"Miguet","year":"2018","journal-title":"J. Med. Genet."},{"key":"ref_117","doi-asserted-by":"crossref","unstructured":"Pitzianti, M.B., Palombo, A.S., Esposito, S., and Pasini, A. (2019). Rett syndrome in males: The different clinical course in two brothers with the same microduplication MECP2 Xq28. Int. J. Environ. Res. Public Health, 16.","DOI":"10.3390\/ijerph16173075"},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1016\/j.braindev.2018.09.008","article-title":"Successful corpus callosotomy for post-encephalopathic refractory epilepsy in a patient with MECP2 duplication syndrome","volume":"41","author":"Kanai","year":"2019","journal-title":"Brain Dev."},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"E108","DOI":"10.1212\/WNL.0000000000006742","article-title":"Spectrum and time course of epilepsy and the associated cognitive decline in MECP2 duplication syndrome","volume":"92","author":"Marafi","year":"2019","journal-title":"Neurology"},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1016\/j.braindev.2018.12.008","article-title":"Electroencephalographic and epilepsy findings in mecp2 duplication syndrome. A family study","volume":"41","author":"Lotti","year":"2019","journal-title":"Brain Dev."},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"1315","DOI":"10.1111\/jpc.14399","article-title":"The incidence, prevalence and clinical features of MECP2 duplication syndrome in Australian children","volume":"55","author":"Downs","year":"2019","journal-title":"J. Paediatr. Child Health"},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1111\/cge.13521","article-title":"Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome","volume":"95","author":"Peters","year":"2019","journal-title":"Clin. Genet."},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1111\/cge.13718","article-title":"Molecular characterization of Spanish patients with MECP2 duplication syndrome","volume":"97","author":"Blasco","year":"2020","journal-title":"Clin. Genet."},{"key":"ref_124","first-page":"309","article-title":"S\u00edndrome de duplicaci\u00f3n MECP2 familiar","volume":"70","year":"2020","journal-title":"Rev. Neurol."},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1002\/ana.25797","article-title":"Comparison of core features in four developmental encephalopathies in the Rett Natural History Study","volume":"88","author":"Armstrong","year":"2020","journal-title":"Ann. Neurol."},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"e01202","DOI":"10.1213\/XAA.0000000000001202","article-title":"Anesthetic management for a patient with MECP2 duplication syndrome: A case report","volume":"14","author":"Choi","year":"2020","journal-title":"A&A Pract."},{"key":"ref_127","first-page":"2437","article-title":"Sleep-disordered breathing and nocturnal hypoventilation in children with the MECP2 duplication syndrome: A case series and review of the literature","volume":"182A","author":"Verhoustraeten","year":"2020","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1002\/ajmg.a.61510","article-title":"MECP2 duplication syndrome in a patient from Cameroon","volume":"182","author":"Dahoun","year":"2020","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1002\/ajmg.a.61956","article-title":"Phenotypic features in MECP2 duplication syndrome: Effects of age","volume":"185A","author":"Peters","year":"2021","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"117321","DOI":"10.1016\/j.jns.2021.117321","article-title":"Early diagnosis of MECP2 duplication syndrome: Insights from a nationwide survey in Japan","volume":"422","author":"Takeguchi","year":"2021","journal-title":"J. Neurol. Sci."},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1097\/01.ccm.0000728268.60502.52","article-title":"Abdominal compartment syndrome secondary to chronic constipation in MECP2 duplication syndrome","volume":"49","author":"Singh","year":"2021","journal-title":"Clin. Care Med."},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1159\/000329580","article-title":"MECP2 duplication syndrome","volume":"2","year":"2011","journal-title":"Mol. Syndromol."},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1002\/aur.1262","article-title":"The behavioral phenotype in MECP2 duplication syndrome: A comparison with idiopathic autism","volume":"6","author":"Peters","year":"2013","journal-title":"Autism Res."},{"key":"ref_134","unstructured":"Gurovich, Y., Hanani, Y., Bar, O., Fleischer, N., Gelbman, D., Basel-Salmon, L., Krawitz, P., Kamphausen, S.B., Zenker, M., and Bird, L.M. (2018). DeepGestalt\u2014Identifying rare genetic syndromes using deep learning. arXiv."},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"e793","DOI":"10.1002\/mgg3.793","article-title":"Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis","volume":"7","author":"Vidal","year":"2019","journal-title":"Mol. Genet. Genomic Med."},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/humu.1144","article-title":"Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene","volume":"18","author":"Weller","year":"2001","journal-title":"Hum. Mutat."},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1038\/s41583-018-0006-3","article-title":"Rett syndrome: Insights into genetic, molecular and circuit mechanisms","volume":"19","author":"Ip","year":"2018","journal-title":"Nat. Rev. Neurosci."},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"e02676","DOI":"10.7554\/eLife.02676","article-title":"Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice","volume":"3","author":"Heckman","year":"2014","journal-title":"Elife"},{"key":"ref_139","doi-asserted-by":"crossref","first-page":"7785","DOI":"10.1126\/scitranslmed.aaz7785","article-title":"Antisense oligonucleotide therapy in a humanized mouse model of MECP2 duplication syndrome","volume":"13","author":"Shao","year":"2021","journal-title":"Sci. Transl. Med"},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1016\/j.ajhg.2015.11.012","article-title":"Spell Checking Nature: Versatility of CRISPR\/Cas9 for Developing Treatments for Inherited Disorders","volume":"98","author":"Wojtal","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1073\/pnas.1524013113","article-title":"KCC2 rescues functional deficits in human neurons derived from patients with Rett syndrome","volume":"113","author":"Tang","year":"2016","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_142","doi-asserted-by":"crossref","first-page":"eaau0164","DOI":"10.1126\/scitranslmed.aau0164","article-title":"Pharmacological enhancement of KCC2 gene expression exerts therapeutic effects on human Rett syndrome neurons and Mecp2 mutant mice","volume":"11","author":"Tang","year":"2019","journal-title":"Sci. Transl. Med"},{"key":"ref_143","doi-asserted-by":"crossref","unstructured":"Kim, J.J., Savas, J.N., Miller, M.T., Hu, X., Carromeu, C., Lavall\u00e9e-Adam, M., Freitas, B.C.G., Muotri, A.R., Yates, J.R., and Ghosh, A. (2019). Proteomic analyses reveal misregulation of LIN28 expression and delayed timing of glial differentiation in human iPS cells with MECP2 loss-of-function. PLoS ONE, 14.","DOI":"10.1371\/journal.pone.0212553"},{"key":"ref_144","doi-asserted-by":"crossref","unstructured":"Gomes, A.R., Fernandes, T.G., Cabral, J.M.S., and Diogo, M.M. (2021). Modeling rett syndrome with human pluripotent stem cells: Mechanistic outcomes and future clinical perspectives. Int. J. Mol. Sci., 22.","DOI":"10.3390\/ijms22073751"},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"610427","DOI":"10.3389\/fcell.2020.610427","article-title":"Modeling Rett syndrome with human patient-specific forebrain organoids","volume":"8","author":"Gomes","year":"2020","journal-title":"Front. Cell Dev. Biol."},{"key":"ref_146","first-page":"1","article-title":"Excessive formation and stabilization of dendritic spine clusters in the mecp2-duplication syndrome mouse model of autism","volume":"8","author":"Ash","year":"2021","journal-title":"eNeuro"},{"key":"ref_147","doi-asserted-by":"crossref","unstructured":"Ash, R.T., Buffington, S.A., Park, J., Suter, B., Costa-Mattioli, M., Zoghbi, H.Y., and Smirnakis, S.M. (2021). Inhibition of elevated ras-mapk signaling normalizes enhanced motor learning and excessive clustered dendritic spine stabilization in the mecp2-duplication syndrome mouse model of autism. eNeuro, 8.","DOI":"10.1523\/ENEURO.0056-21.2021"}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/22\/17\/9610\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T06:56:32Z","timestamp":1760165792000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/22\/17\/9610"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9,4]]},"references-count":147,"journal-issue":{"issue":"17","published-online":{"date-parts":[[2021,9]]}},"alternative-id":["ijms22179610"],"URL":"https:\/\/doi.org\/10.3390\/ijms22179610","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,9,4]]}}}