Clinical features and genotype analysis in a case of dyskeratosis congenita

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.85-15TC 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- 15TC 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.