Mutation Detection With Dyskeratosis Congenita And Literature Review

Objective:To detect gene mutation with dyskeratosis congenita and make a definite diagnosis.Methods:Clinical data were collected from a patient with DC.DNA was extracted from peripheral blood of the patient and her relatives.Meanwhile 100 DNA samples were collected from unrelated normal individuals as controls.PCR was caried out to amplify all the exons and flanking sequences of DKC1 gene followed by sequencing.Results:DNA sequence analysis showed a C1058T mutation in DKC1 gene of the patient in a X-linked recessive transmission which resulting in a Ala353Val missense mutation.His mother was a carrier of the mutated gene and presented without any clinical features.No mutation was found in his father and normal individuals.Conclusions:The mutation of c.C1058T is the underlying cause of DC.This study adds to the current DC mutation database and provides reliable basis for patients and their families for genetic counseling.