Evans Julie C, Archer Hayley L, Colley James P, Ravn Kirstine, Nielsen Jytte Bieber, Kerr Alison, Williams Elizabeth, Christodoulou John, Gécz Jozef, Jardine Philip E, Wright Michael J, Pilz Daniela T, Lazarou Lazarus, Cooper David N, Sampson Julian R, Butler Rachel, Whatley Sharon D, Clarke Angus J
Department of Medical Genetics, Cardiff University, Heath Park, Cardiff, UK.
Eur J Hum Genet. 2005 Oct;13(10):1113-20. doi: 10.1038/sj.ejhg.5201451.
Mutations in the CDKL5 gene (also known as STK9) have recently been shown to cause early onset epilepsy and severe mental retardation (ISSX or West syndrome). Patients with CDKL5 mutations sometimes also show features similar to those seen in Rett Syndrome (RTT). We have screened the CDKL5 gene in 94 patients with RTT or a RTT-like phenotype who had tested negative for MECP2 mutations (13 classical RTT female subjects, 25 atypical RTT female subjects, 40 RTT-like female and 16 RTT-like male subjects; 33 of the patients had early onset seizures). Novel pathogenic CDKL5 mutations were identified in three girls, two of whom had initially been diagnosed with the early onset seizure variant of RTT and the other with early onset seizures and some features of RTT. In addition, the 33 patients with early seizures were screened for the most common mutations in the ARX gene but none were found. Combining our three new cases with the previously published cases, 13/14 patients with CDKL5 mutations presented with seizures before the age of 3 months.
CDKL5基因（也称为STK9）的突变最近被证明可导致早发性癫痫和严重智力迟钝（婴儿痉挛症或韦斯特综合征）。携带CDKL5突变的患者有时还会表现出与雷特综合征（RTT）相似的特征。我们对94例RTT或RTT样表型且MECP2突变检测呈阴性的患者进行了CDKL5基因筛查（13例典型RTT女性受试者、25例非典型RTT女性受试者、40例RTT样女性和16例RTT样男性受试者；其中33例患者有早发性癫痫发作）。在三名女孩中发现了新的致病性CDKL5突变，其中两名最初被诊断为RTT早发性癫痫发作变异型，另一名患有早发性癫痫发作及一些RTT特征。此外，对33例早发性癫痫患者进行了ARX基因最常见突变的筛查，但未发现任何突变。将我们的三个新病例与之前发表的病例相结合，14例携带CDKL5突变的患者中有13例在3个月龄前出现癫痫发作。
