A novel DKC1 gene mutation in a case of dyskeratosis congenita
- VernacularTitle:一例新发DKC1基因突变导致先天性角化不良
- Author:
Wenli HE
1
;
Shuyu FANG
1
;
Lu YANG
1
;
Rui GAN
1
;
Lang YU
1
;
Yunfei AN
1
;
Xiaodong ZHAO
1
;
Li'na ZHOU
1
Author Information
- Publication Type:Journal Article
- Keywords: Dyskeratosis congenita; DKC1; Inborn Errors of Immunity; Telomere; Flow-FISH
- From: Immunological Journal 2025;41(2):103-109
- CountryChina
- Language:Chinese
- Abstract: Objective To determine the pathogenicity of a novel mutation(c.109_111del)in DKC1 gene of an adult patient,and to analyze the clinical phenotype,immunophenotype and telomere length,so as to provide clues for early clinical identification and diagnosis.Methods The clinical data and peripheral blood samples of the patient were collected for genetic testing and family analysis.The lymphocyte subsets of the patient were detected by Flow cytometry,and the telomere length of the patient and healthy controls were detected by Flow-FISH.Results The main clinical manifestations of the patient were mucocutaneous triad,bone marrow failure and infection.The telomere length of lymphocytes in the patient was significantly shorter than that of healthy controls of the same age,and the absolute value and percentage of lymphocyte subsets were abnormal.Conclusion The clinical manifestations of DC patients are diverse.Flow-FISH detection of telomere length is helpful for early diagnosis of DC patients.
