Clinical and genetic characteristics of a patient with dyskeratosis congenita / 中华儿科杂志
Chinese Journal of Pediatrics
; (12): 867-870, 2009.
Article
em Zh
| WPRIM
| ID: wpr-358481
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To analyze the clinical features and gene mutation of a patient with dyskeratosis congenita, who was admitted in our hospital for thrombocytopenia.</p><p><b>METHOD</b>The clinical and laboratory data of a 4 years and 10 months old boy were summarized. DKC1 gene was analyzed using PCR amplification and DNA sequencing.</p><p><b>RESULT</b>The age of onset of the boy was 1 year. He presented with abnormal cutaneous pigmentation, nail dystrophy and mucosal leukoplakia accompanied by multi-system abnormalities. DKC1 (1058C-T, A353V) was detected in the patient.</p><p><b>CONCLUSION</b>The patient presented with classical features of dyskeratosis congenita and DKC1 (1058C-T, A353V) did exist in this patient. X-linked recessive dyskeratosis congenita was confirmed.</p>
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Proteínas Nucleares
/
Sequência de Bases
/
Proteínas de Ciclo Celular
/
Disceratose Congênita
/
Diagnóstico
/
Genética
/
Mutação
Tipo de estudo:
Diagnostic_studies
Limite:
Child, preschool
/
Humans
/
Male
Idioma:
Zh
Revista:
Chinese Journal of Pediatrics
Ano de publicação:
2009
Tipo de documento:
Article
País de publicação:
CHINA
/
CN
/
REPUBLIC OF CHINA