[Clinical features and genotype analysis in a case of dyskeratosis congenita].
Nan Fang Yi Ke Da Xue Xue Bao
; 35(4): 553-6, 2015 Apr.
Article
em Zh
| MEDLINE
| ID: mdl-25907943
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Disceratose Congênita
/
Genótipo
Tipo de estudo:
Prognostic_studies
Limite:
Child
/
Humans
/
Male
País/Região como assunto:
Asia
Idioma:
Zh
Revista:
Nan Fang Yi Ke Da Xue Xue Bao
Ano de publicação:
2015
Tipo de documento:
Article