CAJ | 학술논문

目的：探讨先天性角化不良症（dyskeratosis congenita, DC）患儿的临床特征和基因特点。方法回顾我院收治的1例DC患儿的临床资料，提取患儿外周血DNA，PCR扩增DC的7个热点基因，包括DKC1、TERT、TERC、TINF2、NOP10、NHP2、WRAP53，进行DNA测序和基因分析。结果患儿外周血标本检测出DKC1基因中一个半合子变异：c.85-15T>C。其母亲为相应变异杂合携带者，并出现部分先天性角化不良的临床表现如指（趾）甲变形等。结论当低龄患儿出现典型皮肤黏膜改变、骨髓衰竭、肿瘤易感性、有肿瘤家族史时，应考虑到DC可能。早期行相关基因检测可提高临床诊断的诊断率，减少误诊、漏诊。
목적：탐토선천성각화불량증（dyskeratosis congenita, DC）환인적림상특정화기인특점。방법회고아원수치적1례DC환인적림상자료，제취환인외주혈DNA，PCR확증DC적7개열점기인，포괄DKC1、TERT、TERC、TINF2、NOP10、NHP2、WRAP53，진행DNA측서화기인분석。결과환인외주혈표본검측출DKC1기인중일개반합자변이：c.85-15T>C。기모친위상응변이잡합휴대자，병출현부분선천성각화불량적림상표현여지（지）갑변형등。결론당저령환인출현전형피부점막개변、골수쇠갈、종류역감성、유종류가족사시，응고필도DC가능。조기행상관기인검측가제고림상진단적진단솔，감소오진、루진。
Objective To analyze the clinical features and genotype in a 8-year-old boy with dyskeratosis congenita (DC). Methods 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. Results 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. Conclusion 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.