{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T02:57:54Z","timestamp":1761101874002},"reference-count":30,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2009,1,22]],"date-time":"2009-01-22T00:00:00Z","timestamp":1232582400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2009,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations of the <jats:italic>cyclin\u2010dependent kinase\u2010like 5<\/jats:italic> gene (<jats:italic>CDKL5<\/jats:italic>), reported almost exclusively in female subjects, have been recently found to be the cause of a phenotype overlapping Rett syndrome with early\u2010onset epileptic encephalopathy. We describe the first <jats:italic>CDKL5<\/jats:italic> mutation detected in a male individual with 47,XXY karyotype. This previously unreported, <jats:italic>de novo<\/jats:italic>, mutation truncates the large <jats:italic>CDKL5<\/jats:italic> COOH\u2010terminal region, thought to be crucial for the proper sub\u2010cellular localization of the CDKL5 protein. The resulting phenotype is characterized by a severe early\u2010onset epileptic encephalopathy, global developmental delay, and profound intellectual and motor impairment with features reminiscent of Rett syndrome. In light of the data presented we discuss the possible phenotypic modulatory effects of the supernumerary wild type X allele and pattern of X chromosome inactivation and stress the importance of considering the causal involvement of <jats:italic>CDKL5<\/jats:italic> in developmentally delayed males with early\u2010onset seizures. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32606","type":"journal-article","created":{"date-parts":[[2009,1,22]],"date-time":"2009-01-22T19:20:22Z","timestamp":1232652022000},"page":"232-236","source":"Crossref","is-referenced-by-count":31,"title":["A novel <i>CDKL5<\/i> mutation in a 47,XXY boy with the early\u2010onset seizure variant of Rett syndrome"],"prefix":"10.1002","volume":"149A","author":[{"given":"Stefano","family":"Sartori","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriella","family":"Di 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