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This study focused on a Chinese patient cohort with <jats:italic>MECP2<\/jats:italic> mutations, and analyzed the characteristics of these mutations and their clinical manifestations. In total, 666 patients were identified with 126 different <jats:italic>MECP2<\/jats:italic> mutations, including 22 novel mutations. Over 80% of patients carried an <jats:italic>MECP2<\/jats:italic> mutation on exon 4. Nonsense and missense mutations were the most commonly reported types. Missense mutations were mainly located on methyl\u2010CpG\u2010binding domain (MBD), and nonsense mutations predominantly occurred on transcription repression domain (TRD) and inter domain. The predilection site of large deletion was exon 3 and\/or exon 4. Patients with p.R133C, p.R294*, p.R306C, and C\u2010terminal domain (CTD) deletions were less severely affected. Significant differences were found in ambulation ability, hand function, and language among different mutation groups. Three female patients with <jats:italic>MECP2<\/jats:italic> mutations (1 with p.R306P and 2 with p.R309W) only presented with intellectual disability\/developmental delay (ID\/DD), and no obvious RTT symptoms were reported. Eight male individuals with <jats:italic>MECP2<\/jats:italic> mutations were also identified in this study, including 2 diagnosed with typical RTT, 3 with atypical RTT and 3 with ID\/DD.<\/jats:p>","DOI":"10.1111\/cge.13790","type":"journal-article","created":{"date-parts":[[2020,5,30]],"date-time":"2020-05-30T08:24:24Z","timestamp":1590827064000},"page":"240-250","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["<scp><i>MECP2<\/i><\/scp> mutation spectrum and its clinical characteristics in a Chinese cohort"],"prefix":"10.1111","volume":"98","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8406-0374","authenticated-orcid":false,"given":"Yongxin","family":"Wen","sequence":"first","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital  Beijing 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