{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T22:43:10Z","timestamp":1790462590002,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2009,2,27]],"date-time":"2009-02-27T00:00:00Z","timestamp":1235692800000},"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":[[2009,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in the X\u2010linked cyclin\u2010dependent kinase\u2010like 5 (<jats:italic>CDKL5<\/jats:italic>) gene have recently been reported in patients with severe neurodevelopmental disorder characterized by early\u2010onset seizures, infantile spasms, severe psychomotor impairment and very recently, in patients with Rett syndrome (RTT)\u2010like phenotype. Although the involvement of CDKL5 in specific biological pathways and its neurodevelopmental role have not been completely elucidated, the CDKL5 appears to be physiologically related to the <jats:italic>MECP2<\/jats:italic> gene. Here we report on the clinical and <jats:italic>CDKL5<\/jats:italic> molecular investigation in a very unusual RTT case, with severe, early\u2010neurological involvement in which we have shown in a previous report, a novel P388S <jats:italic>MECP2<\/jats:italic> mutation [Conforti et al. (2003); Am J Med Genet A 117A: 184\u2013187]. The patient has had severe psychomotor delay since the first month of life and infantile spasms since age 5 months. Moreover, at age 5 years the patient suddenly presented with renal failure. The severe pattern of symptoms in our patient, similar to a CDKL5 phenotype, prompted us to perform an analysis of the <jats:italic>CDKL5<\/jats:italic>, which revealed a novel missense mutation never previously described. The X\u2010inactivation assay was non\u2010informative. In conclusion, this report reinforces the observation that the CDKL5 phenotype overlaps with RTT and that <jats:italic>CDKL5<\/jats:italic> analysis is recommended in patients with a seizure disorder commencing during the first months of life. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32711","type":"journal-article","created":{"date-parts":[[2009,2,27]],"date-time":"2009-02-27T19:25:20Z","timestamp":1235762720000},"page":"722-725","source":"Crossref","is-referenced-by-count":16,"title":["A novel mutation in the X\u2010linked cyclin\u2010dependent kinase\u2010like 5 (<i>CDKL5<\/i>) gene associated with a severe Rett phenotype"],"prefix":"10.1002","volume":"149A","author":[{"given":"T.","family":"Sprovieri","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.L.","family":"Conforti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Fiumara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Mazzei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Ungaro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Citrigno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Muglia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Arena","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Quattrone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,3,24]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/13810"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.041467"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awn197"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinph.2005.09.008"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2007.10.001"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10898"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201451"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2006.09.001"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1985.tb10993.x"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1053\/ejpn.2002.0612"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(85)80037-1"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/375538"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi198"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2006.00629.x"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2007.10.010"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.053504"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.026237"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1086\/426460"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1086\/426462"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.027730"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.32711","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32711","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T04:14:09Z","timestamp":1697602449000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32711"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,3,24]]},"references-count":20,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2009,4]]}},"alternative-id":["10.1002\/ajmg.a.32711"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32711","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,3,24]]}}}