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先天性角化不良遗传背景及临床特点 被引量：3

Genetic background and clinical features of dyskeratosis congenita
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摘要 先天性角化不良（dyskeratosiscongenita，DC）是一种由端粒维持相关基因缺陷导致的遗传多系统骨髓衰竭综合征，表现为显著的临床与遗传异质性，以网状皮肤色素沉着、甲营养不良、黏膜白斑、易患恶性肿瘤为临床特点。DC最早于1906年由Zinsser首先报道，经由Engman（1926）和Cole（1930）首次确诊，故又称Zinsser—Engman—Cole综合征。
作者 周丽娜 安云飞 赵晓东
机构地区 重庆医科大学附属儿童医院感染免疫中心
出处 《中国实用儿科杂志》 CSCD 北大核心 2016年第5期386-390,共5页 Chinese Journal of Practical Pediatrics
基金 公益性行业科研专项(201402012)
关键词 先天性角化不良 基因突变 端粒维持缺陷 端粒酶 骨髓衰竭 dyskeratosis congenita gene mutation defective telomere maintenance telomerase bone marrow failure
分类号 R72 [医药卫生—儿科]
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参考文献25

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  • 5Walne AJ, Vulliamy T, Marrone A, et al. Genetic heterogene- ity in autosomal recessive dyskeratosis congenita with one sub- type due to mutations in the telomerase-associated protein NOP10[J]. Hum Mol Genet,2007,16(13) : 1619-1629.
  • 6Vulliamy T, Beswick R, Kirwan M, et al. Mutations in the telom- erase component NHP2 cause the premature ageing syndrome dyskeratosis congenita [J ]. Proc Natl Acad Sci U S A, 2008, 105 (23) : 8073-8078.
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  • 8Walne AJ, Vulliamy T, Beswick R, et al. Mutations in C 16nrf57 and normal-length telomeres unify a subset of patients with dys- keratosis congenita, poikiloderma with neutropenia and Roth- round-Thomson syndrome [ J ]. Hum Mol Genet, 2010, 19 (22) : 4453 -4461.
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二级参考文献36

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中国实用儿科杂志
2016年 第5期

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