{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T07:42:40Z","timestamp":1779349360254,"version":"3.51.4"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2006,5,26]],"date-time":"2006-05-26T00:00:00Z","timestamp":1148601600000},"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":[[2006,7]]},"abstract":"<jats:p>The <jats:italic>CDKL5<\/jats:italic> gene has been implicated in infantile spasms and more recently in a Rett syndrome\u2010like phenotype. We report a case of a young girl presenting generalized convulsions at 10 days of life. Subsequent mutation analysis by denaturing high\u2010performance liquid chromatography of <jats:italic>MECP2<\/jats:italic> and <jats:italic>CDKL5<\/jats:italic> genes revealed heterozygosity for a c.47_48insAGG insertion in exon 1 of <jats:italic>MECP2<\/jats:italic> and heterozygosity for a new nonsense mutation p.Q834X and a new missense variant p.V999M in the <jats:italic>CDKL5<\/jats:italic> gene. Co\u2010segregation analysis showed that the nonsense mutation was a <jats:italic>de novo<\/jats:italic> mutation and that the insertion and the missense variant were also found in the asymptomatic mother. In the absence of skewed X inactivation in the mother, it is likely that these last two variants are not pathogenic. Reverse transcription\u2010polymerase chain reaction from lymphoblastoid cells of the patient showed only the transcript without the nonsense and missense variations suggesting decreased stability of mature mRNA by nonsense\u2010mediated decay. These data also suggest an occurrence of the <jats:italic>de novo<\/jats:italic> mutation in maternal germ line cells. Moreover, this report reinforces the observation that the <jats:italic>CDKL5<\/jats:italic> phenotype overlaps with Rett syndrome and that <jats:italic>CDKL5<\/jats:italic> gene analysis is recommended in females with a seizure disorder commencing in the first weeks of life.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2006.00629.x","type":"journal-article","created":{"date-parts":[[2006,5,26]],"date-time":"2006-05-26T14:42:55Z","timestamp":1148654575000},"page":"29-33","source":"Crossref","is-referenced-by-count":33,"title":["Maternal origin of a novel C\u2010terminal truncation mutation in <i>CDKL5<\/i> causing a severe atypical form of Rett syndrome"],"prefix":"10.1111","volume":"70","author":[{"given":"J","family":"Nectoux","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Heron","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Tallot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Chelly","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"Bienvenu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,6,23]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1086\/375538"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.026237"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1086\/426460"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201451"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1086\/426462"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1053\/ejpn.2002.0612"},{"key":"e_1_2_6_8_2","first-page":"1229","article-title":"Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen\u2010receptor gene correlate with X chromosome inactivation","volume":"51","author":"Allen RC","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201270"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1327"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1998.5391"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.10.1893"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380040111"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380050305"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-001-0631-0"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(200010)16:4<307::AID-HUMU3>3.0.CO;2-L"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2006.00629.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2006.00629.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,9]],"date-time":"2023-10-09T23:32:49Z","timestamp":1696894369000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2006.00629.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,6,23]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2006,7]]}},"alternative-id":["10.1111\/j.1399-0004.2006.00629.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2006.00629.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":[[2006,6,23]]}}}