Clinical features and genotype analysis in a case of dyskeratosis congenita
YUAN Shanshan
LU Yidan
WU Cuiling
LI Huiping
GE Hui
ZHANG Yuming
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.
Keywords：dyskeratosis congenitalbone marrow failureDKC1 gene
Publication Date：2015-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 553-556 )