{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T00:54:31Z","timestamp":1785804871818,"version":"3.56.0"},"reference-count":28,"publisher":"SAGE Publications","issue":"7","license":[{"start":{"date-parts":[[2004,7,1]],"date-time":"2004-07-01T00:00:00Z","timestamp":1088640000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2004,7]]},"abstract":"<jats:p>To date, approximately 200 different mutations in the MECP2 gene have been identified. We analyzed the entire coding sequence of the MECP2 gene and the X-chromosome inactivation pattern in 42 sporadic cases of Rett syndrome. Of the 42 patients, 30 had pathogenic mutations, including 14 different mutations: 9 missense mutations, 4 nonsense mutations, and 1 frameshift mutation. One was a novel mutation (S134P). There was a tendency for patients who had a nonsense mutation in the transcriptional repression domain region to show earlier onset of regression and more severe language retardation than patients with a mutation in the methyl-CpG binding domain region. However, the parameters of clinical severity were variable among patients with the same type of mutation, depending on the pattern of X-chromosome inactivation. This study suggests that the X-chromosome inactivation pattern can modify the phenotype of Rett syndrome, which is primarily determined by the type and site of MECP2 gene mutation. ( J Child Neurol 2004;19:503\u2014508).<\/jats:p>","DOI":"10.1177\/08830738040190070501","type":"journal-article","created":{"date-parts":[[2007,10,31]],"date-time":"2007-10-31T16:14:28Z","timestamp":1193847268000},"page":"503-508","source":"Crossref","is-referenced-by-count":18,"title":["Influence of MECP2 Gene Mutation and X-Chromosome Inactivation on the Rett Syndrome Phenotype"],"prefix":"10.1177","volume":"19","author":[{"family":"Jong Hee Chae","sequence":"first","affiliation":[{"name":"Department of Pediatrics Seoul National University College of Medicine, Seoul, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"family":"Hee Hwang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Seoul National University College of Medicine, Seoul, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"family":"Yong Seung Hwang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Seoul National University College of Medicine, 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