先天性角化不良症患儿的临床特征和基因分析:附1例报告  

Clinical features and genotype analysis in a case of dyskeratosis congenita

作　　者：袁姗姗[1] 陆一丹[1] 吴翠玲[1] 李惠萍[1] 戈慧 张玉明[1] 

机构地区：[1]南方医科大学南方医院小儿科,广东广州510515

出　　处：《南方医科大学学报》2015年第4期553-556,共4页Journal of Southern Medical University

基　　金：国家自然科学基金(81270632);广东省自然科学基金(S2011010003914);广州市科技计划项目(2013j4100108)~~

摘　　要：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。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.

关 键 词：先天性角化不良 骨髓衰竭 DKC1基因 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]