Inserm, U1016, Paris, France.
J Hum Genet. 2011 Jan;56(1):52-7. doi: 10.1038/jhg.2010.143. Epub 2010 Dec 2.
We report the identification of a novel exon, which is referred to as exon 16b, within the cyclin-dependent kinase (CDK)-like 5 (CDKL5) gene that is implicated in the X-linked infantile spasm syndrome and the early-onset seizure variant of Rett syndrome. Interestingly, it is highly conserved in species through evolution, suggesting a potential functional role, but does not display any homology with other referenced sequences. Most importantly, the transcript including this exon is specifically expressed in brain. We suggest that CDKL5 exon 16b should now be considered in the genetic screening of patients presenting with a CDKL5-related disease profile.
我们发现，细胞周期蛋白依赖性激酶样 5（CDKL5）基因中存在一个新的外显子 16b，该外显子与 X 连锁婴儿痉挛综合征和雷特综合征的早发性癫痫变异型有关。有趣的是，它在进化过程中在物种中高度保守，提示其可能具有潜在的功能作用，但与其他参考序列没有任何同源性。最重要的是，包含此外显子的转录本在大脑中特异性表达。我们建议，在具有 CDKL5 相关疾病特征的患者的基因筛查中应考虑 CDKL5 外显子 16b。
