PDF(Pubmed)
Abstract：
Cyclin-dependent kinase 13 (CDK13)-related disorder is a rare autosomal dominant disease caused by pathogenic variants in the CDK13 gene. This disorder was found to be related to several clinical features, including structural cardiac anomalies, developmental delay, anomalies of the corpus callosum, and a variety of facial dysmorphisms. In addition, feeding difficulties and neonatal hypotonia might also present. The diagnosis of this disorder is based on molecular genetic testing to detect the causative pathogenic variants. Here, we report a case of a one-year-old girl from Yemen, residing in Bahrain, with a CDK13-related disorder who was found to have an unusual association of abdominal situs inversus along with multiple structural cardiac anomalies, including atrial septal defect, ventricular septal defect, patent ductus arteriosus, interrupted inferior vena cava, bilateral superior vena cava, mild coarctation of the aorta, dilated coronary sinuses, and mild regurgitation in the tricuspid valve. Moreover, facial dysmorphism including medial epicanthal folds, posteriorly rotated ears, and a depressed nasal bridge was also noted. Further assessment showed a delay in reaching developmental milestones, including speech and motor delay. The patient also presented with recurrent episodes of upper respiratory tract infections, acute bronchiolitis, and lobar pneumonia which required admission to the intensive care unit and ventilation. The last infection episode was at the age of one year. Thereafter, the patient underwent cardiac repair of the ventricular septal defect followed by no more infection episodes until the age of one year and two months. The diagnosis of CDK13 was confirmed by a whole exome sequencing test which demonstrated a novel missense variant in exon 14 of the CDK13 gene as a variant of uncertain significance in a heterozygous state.
摘要：
细胞周期蛋白依赖性激酶13（CDK13）相关疾病是一种罕见的常染色体显性疾病，由CDK13基因的致病变异引起。发现这种疾病与几种临床特征有关，包括结构性心脏异常,发育迟缓,call体的异常，和各种面部畸形。此外,喂养困难和新生儿低张力也可能存在。这种疾病的诊断基于分子遗传检测以检测致病变异。这里,我们报道了一个也门一岁女孩的病例,居住在巴林,与CDK13相关的疾病，被发现与腹部位置倒置和多个结构性心脏异常异常有关，包括房间隔缺损,室间隔缺损,动脉导管未闭,下腔静脉中断,双侧上腔静脉,轻微的主动脉缩窄,扩张的冠状窦,三尖瓣轻度返流.此外，面部畸形，包括内侧上皮褶皱，向后旋转的耳朵，还注意到鼻梁凹陷。进一步的评估显示，在达到发展里程碑方面有所延迟，包括语音和运动延迟。患者还出现反复发作的上呼吸道感染,急性细支气管炎,和大叶性肺炎，需要进入重症监护病房和通风。最后一次感染是在一岁时。此后,患者接受了室间隔缺损的心脏修复术,随后在1岁零2个月的年龄内不再发生感染.通过全外显子组测序试验证实了CDK13的诊断，该试验证明了CDK13基因外显子14中的新型错义变异，是杂合状态下具有不确定意义的变异。
