[Clinical and genetic characteristics of a patient with dyskeratosis congenita].
OBJECTIVE
To analyze the clinical features and gene mutation of a patient with dyskeratosis congenita, who was admitted in our hospital for thrombocytopenia.


METHODS
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.


RESULTS
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.


CONCLUSIONS
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.
Li
Jian-guo
JG
Department of Hematology, Capital Institute of Pediatrics, Beijing 100020, China.
Li
Yan
Y
Lin
Zhi-miao
ZM
Ma
Zhi-hong
ZH
Li
Jun-hui
JH
Liu
Rong
R
Shi
Xiao-dong
XD
Yang
Yong
Y
Wang
Tian-you
TY
D001483:Base Sequence; D018797:Cell Cycle Proteins / Q000235:genetics*; D002675:Child, Preschool; D019871:Dyskeratosis Congenita / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*
D018797:Cell Cycle Proteins; C112148:DKC1 protein, human; D009687:Nuclear Proteins