{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T09:40:47Z","timestamp":1698831647780},"reference-count":28,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2012,1,20]],"date-time":"2012-01-20T00:00:00Z","timestamp":1327017600000},"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":[[2012,12]]},"abstract":"<jats:p>Zhang J, Bao X, Cao G, Jiang S, Zhu X, Lu H, Jia L, Pan H, Fehr S, Davis M, Leonard H, Ravine D, Wu X. What does the nature of the <jats:italic>MECP2<\/jats:italic> mutation tell us about parental origin and recurrence risk in Rett syndrome?<\/jats:p><jats:p>The <jats:italic>MECP2<\/jats:italic> mutations occurring in the severe neurological disorder Rett syndrome are predominantly <jats:italic>de novo<\/jats:italic>, with rare familial cases. The aims of this study were to provide a precise estimate of the parental origin of <jats:italic>MECP2<\/jats:italic> mutations using a large Chinese sample and to assess whether parental origin varied by mutation type. The parental origin was paternal in 84\/88 [95.5%, (95% confidence interval 88.77\u201398.75)] of sporadic Chinese cases. However, in a pooled sample including data from the literature the spectrum of mutations occurring on maternally and paternally derived chromosomes differed significantly. The excess we found of \u2018single base pair gains or losses' on maternally derived <jats:italic>MECP2<\/jats:italic> gene alleles suggests that this mutational category is associated with an elevated risk of gonadal mosaicism, which has implications for genetic counseling.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2011.01838.x","type":"journal-article","created":{"date-parts":[[2011,12,19]],"date-time":"2011-12-19T19:12:20Z","timestamp":1324321940000},"page":"526-533","source":"Crossref","is-referenced-by-count":7,"title":["What does the nature of the <i>MECP2<\/i> mutation tell us about parental origin and recurrence risk in Rett 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