有21种人类细胞周期蛋白依赖性激酶参与细胞周期的调节,转录,RNA剪接,细胞凋亡和神经发生。其中5个:CDK4、CDK5、CDK6、CDK10和CDK13与人类表型有关。迄今为止,只有62例患者出现CDK13基因突变.那些病人有发育迟缓,畸形面部特征,喂养困难,不同结构的心脏和大脑缺陷。其中36例具有影响CDK13蛋白激酶结构域的错义突变。我们的患者是迄今为止报道的第一个移码突变的人,该突变在CDK13基因的第一个外显子中引入了过早的终止密码子。她有先天性心脏病的特征性症状,面部畸形和智力发育障碍(CHDFIDD)。
There are 21 human cyclin-dependent kinases which are involved in regulation of the cell cycle, transcription, RNA splicing, apoptosis and neurogenesis. Five of them: CDK4, CDK5, CDK6, CDK10 and CDK13 are associated with human phenotypes. To date, only 62 patients have been presented with mutated CDK13 gene. Those patients had developmental delay, dysmorphic facial features, feeding difficulties, different structural heart and brain defects. 36 of them had missense mutation affecting the protein kinase domain of CDK13. Our patient is the first person reported so far with a frameshift mutation which introduce premature stop codon in the first exon of the CDK13 gene. She has symptoms characteristic for congenital heart defects, facial dysmorphism and intellectual developmental disorder (CHDFIDD).