{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,17]],"date-time":"2026-04-17T04:48:57Z","timestamp":1776401337019,"version":"3.51.2"},"reference-count":14,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2008,1,8]],"date-time":"2008-01-08T00:00:00Z","timestamp":1199750400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2008,3]]},"abstract":"<jats:p>Mutations in the X\u2010linked <jats:italic>MECP2 <\/jats:italic>gene cause Rett syndrome, a neurodevelopmental disorder that exclusively affects girls. Females with the <jats:italic>MECP2 <\/jats:italic>mutations exhibit a broad spectrum of clinical presentations ranging from classical Rett syndrome to asymptomatic carriers, which can be explained by differences in X chromosome inactivation (XCI). Here, we report a family with a girl with Rett syndrome in whom a novel missense mutation in the <jats:italic>MECP2 <\/jats:italic>gene was transmitted through the maternal germ line. The carrier mother was asymptomatic and presented non\u2010random XCI in the peripheral blood cells, which resulted in the X chromosome harboring the mutant allele that was predominantly active. Thus, the presence of non\u2010random XCI in the peripheral blood cells did not provide an explanation for the normal phenotype of the carrier mother. This result suggests that mechanisms other than XCI may contribute to the phenotypic heterogeneity associated with <jats:italic>MECP2 <\/jats:italic>mutations.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2007.00944.x","type":"journal-article","created":{"date-parts":[[2009,1,23]],"date-time":"2009-01-23T10:23:40Z","timestamp":1232706220000},"page":"257-261","source":"Crossref","is-referenced-by-count":23,"title":["Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with <i>MECP2 <\/i>mutation resulting in Rett syndrome"],"prefix":"10.1111","volume":"73","author":[{"given":"S","family":"Takahashi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Ohinata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y","family":"Makita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N","family":"Suzuki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Araki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Sasaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Murono","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Tanaka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Fujieda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,1,8]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/13810"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1086\/320109"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.55.8.1188"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.7.435"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1086\/303078"},{"key":"e_1_2_6_7_2","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 RC","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_8_2","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1210\/jcem.87.1.8137","article-title":"The androgen receptor CAG repeat polymorphism and X\u2010chromosome inactivation in Australian Caucasian women with infertility related to polycystic ovary syndrome","volume":"87","author":"Hickey T","year":"2002","journal-title":"J Clin Endocrinol Metab"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2334-2-20"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(01)00344-8"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.042077"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004390000382"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(12)80194-X"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2004.07.002"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00109-003-0444-9"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2007.00944.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2007.00944.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T07:26:57Z","timestamp":1696922817000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2007.00944.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,1,8]]},"references-count":14,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2008,3]]}},"alternative-id":["10.1111\/j.1399-0004.2007.00944.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2007.00944.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,1,8]]}}}