Clinical and genetic characteristics of a patient with dyskeratosis congenita.
- Author:
Jian-guo LI
1
;
Yan LI
;
Zhi-miao LIN
;
Zhi-hong MA
;
Jun-hui LI
;
Rong LIU
;
Xiao-dong SHI
;
Yong YANG
;
Tian-you WANG
Author Information
- Publication Type:Case Reports
- MeSH: Base Sequence; Cell Cycle Proteins; genetics; Child, Preschool; Dyskeratosis Congenita; diagnosis; genetics; Humans; Male; Mutation; Nuclear Proteins; genetics
- From: Chinese Journal of Pediatrics 2009;47(11):867-870
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze the clinical features and gene mutation of a patient with dyskeratosis congenita, who was admitted in our hospital for thrombocytopenia.
METHODThe 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.
RESULTThe 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.
CONCLUSIONThe 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.
