Yuan Shan-Shan, Lu Yi-Dan, Wu Cui-Ling, Li Hui-Ping, Ge Hui, Zhang Yu-Ming
Department of Pediatrics, Nanfang Hospital, Southern Medical University, Guangzhou 510515, China. E-mail:
Nan Fang Yi Ke Da Xue Xue Bao. 2015 Apr;35(4):553-6.
To analyze the clinical features and genotype in a 8-year-old boy with dyskeratosis congenita (DC).
We reviewed the clinical data of the case and amplified 7 DC-related genes (including DKC1,TERT,TERC,TINF2,NOP10, NHP2 and WRAP53) using polymerase chain reaction for DNA sequence analysis to identify the abnormal exons.
DNA sequence analysis showed a c.85-15T>C mutation in DKC1 gene of the patient. His mother was a carrier of the mutated gene and presented with partial clinical features such as abnormal nails.
The mutation of c.85-15T>C in DKC1 gene was reported for the first time in China. The diagnosis of DC should be considered if a young patient presents with mucocutaneous abnormalities, bone marrow failure, cancer susceptibility and a family history of cancer. Early genetic tests can improve the diagnosis rates and reduce misdiagnosis and missed diagnosis.
分析一名8岁先天性角化不良（DC）男孩的临床特征及基因型。
回顾该病例的临床资料，采用聚合酶链反应扩增7个与DC相关的基因（包括DKC1、TERT、TERC、TINF2、NOP10、NHP2和WRAP53）进行DNA序列分析，以鉴定异常外显子。
DNA序列分析显示该患者DKC1基因存在c.85-15T>C突变。其母亲为突变基因携带者，表现出部分临床特征，如指甲异常。
DKC1基因c.85-15T>C突变在中国首次报道。对于出现皮肤黏膜异常、骨髓衰竭、癌症易感性及癌症家族史的年轻患者，应考虑诊断为DC。早期基因检测可提高诊断率，减少误诊和漏诊。
