Zhonghua er ke za zhi = Chinese journal of pediatrics · 2009
[Clinical and genetic characteristics of a patient with dyskeratosis congenita].
Клинический случайАннотация на английскомСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
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Li Jian-guo, Li Yan, Lin Zhi-miao, Ma Zhi-hong, Li Jun-hui, Liu Rong, Shi Xiao-dong, Yang Yong, Wang Tian-you
Аннотация
OBJECTIVE: To analyze the clinical features and gene mutation of a patient with dyskeratosis congenita, who was admitted in our hospital for thrombocytopenia.
METHOD: 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.
RESULT: 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.
CONCLUSION: 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.
METHOD: 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.
RESULT: 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.
CONCLUSION: 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.