Clinical features and genotype analysis in a case of dyskeratosis congenita / 南方医科大学学报

ABSTRACT

<p><b>OBJECTIVE</b>To analyze the clinical features and genotype in a 8-year-old boy with dyskeratosis congenita (DC).</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>