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.