{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T16:43:50Z","timestamp":1778863430390,"version":"3.51.4"},"reference-count":31,"publisher":"SAGE Publications","issue":"7","license":[{"start":{"date-parts":[[2010,3,5]],"date-time":"2010-03-05T00:00:00Z","timestamp":1267747200000},"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":[[2010,7]]},"abstract":"<jats:p>Rett syndrome is an X-linked neurodevelopmental disorder that predominantly affects females. It is caused by mutations in methyl-CpG-binding protein 2 gene. Due to the sex-limited expression, it has been suggested that de novo X-linked mutations may exclusively occur in male germ cells and thus only females are affected. In this study, the authors have analyzed the parental origin of mutations and the X-chromosome inactivation status in 24 sporadic patients with identified methyl-CpG-binding protein2 gene mutations. The results showed that 22 of 24 patients have a paternal origin. Only 2 patients have a maternal origin. Except for 2 cases which were homozygotic at the androgen receptor gene locus, of the remaining 22 cases, 16 cases have a random X-chromosome inactivation pattern; the other 6 cases have a skewed X-chromosome inactivation and they favor expression of the wild allele. The relationship between X-chromosome inactivation and phenotype may need more cases to explore.<\/jats:p>","DOI":"10.1177\/0883073809350722","type":"journal-article","created":{"date-parts":[[2010,3,5]],"date-time":"2010-03-05T20:13:12Z","timestamp":1267819992000},"page":"842-848","source":"Crossref","is-referenced-by-count":20,"title":["Analysis of the Parental Origin of De Novo\n                    <i>MECP2<\/i>\n                    Mutations and X Chromosome Inactivation in 24 Sporadic Patients With Rett Syndrome in China"],"prefix":"10.1177","volume":"25","author":[{"given":"Xingwang","family":"Zhu","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Peking University First Hospital, Beijing, People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meirong","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Peking University First Hospital, Beijing, People's Republic of China, Department of 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