先天性角化不良患者的临床及遗传学特征
[Clinical and genetic characteristics of a patient with dyskeratosis congenita].
作者信息
Li Jian-guo, Li Yan, Lin Zhi-miao, Ma Zhi-hong, Li Jun-hui, Liu Rong, Shi Xiao-dong, Yang Yong, Wang Tian-you
机构信息
Department of Hematology, Capital Institute of Pediatrics, Beijing 100020, China.
出版信息
Zhonghua Er Ke Za Zhi. 2009 Nov;47(11):867-70.
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.
目的
分析我院收治的1例先天性角化不良合并血小板减少患者的临床特征及基因突变情况。
方法
总结1例4岁10个月男童的临床及实验室资料。采用聚合酶链反应（PCR）扩增及DNA测序分析DKC1基因。
结果
该男童发病年龄为1岁。表现为皮肤色素沉着异常、指甲营养不良及黏膜白斑，并伴有多系统异常。患者检测到DKC1（1058C-T，A353V）突变。
结论
该患者具有先天性角化不良的典型特征，且存在DKC1（1058C-T，A353V）突变。确诊为X连锁隐性先天性角化不良。
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