Clinical features and genotype analysis in a case of dyskeratosis congenita.
- Author:
Shan-Shan YUAN
1
;
Yi-Dan LU
;
Cui-Ling WU
;
Hui-Ping LI
;
Hui GE
;
Yu-Ming ZHANG
Author Information
- Publication Type:Case Reports
- MeSH: Cell Cycle Proteins; genetics; Child; China; Dyskeratosis Congenita; genetics; pathology; Exons; Genotype; Humans; Male; Mutation; Nuclear Proteins; genetics; Polymerase Chain Reaction; Sequence Analysis, DNA
- From: Journal of Southern Medical University 2015;35(4):553-556
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze the clinical features and genotype in a 8-year-old boy with dyskeratosis congenita (DC).
METHODSWe 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.
RESULTSDNA 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.
CONCLUSIONThe 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.
