Clinical features and genotype analysis in a case of dyskeratosis congenita
- VernacularTitle: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
- Author:
Shanshan YUAN
1
;
Yidan LU
;
Cuiling WU
;
Huiping LI
;
Hui GE
;
Yuming ZHANG
Author Information
1. 南方医科大学南方医院小儿科
- Keywords:
dyskeratosis congenital;
bone marrow failure;
DKC1 gene
- From:
Journal of Southern Medical University
2015;(4):553-556
- CountryChina
- Language:Chinese
-
Abstract:
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.
