A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter.
作者信息
Knight Lauren Kerry, McGrath John, Ozoemena Linda, Roberts Riyaadh, Hlela Carol
机构信息
Division of Dermatology, Red Cross Children's Hospital, University of Cape Town, Cape Town, South Africa.
St John's Institute of Dermatology and National Diagnostic Epidermolysis Bullosa Laboratory, London, United Kingdom.
出版信息
JAAD Case Rep. 2023 Mar 7;35:22-24. doi: 10.1016/j.jdcr.2023.02.015. eCollection 2023 May.
Abstract
摘要
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A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter.角蛋白10中的一种新的杂合移码变异导致一名父亲和女儿患豪猪状鱼鳞病。
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New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens.导致大疱性先天性鱼鳞病样红皮病的角蛋白1和导致西门斯大疱性鱼鳞病的角蛋白2e中的新突变。
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本文引用的文献
1
Role of the keratin 1 and keratin 10 tails in the pathogenesis of ichthyosis hystrix of Curth Macklin.角蛋白 1 和角蛋白 10 尾部在 Curth Macklin 硬皮病发病机制中的作用。
PLoS One. 2018 Apr 24;13(4):e0195792. doi: 10.1371/journal.pone.0195792. eCollection 2018.
2
The Molecular Revolution in Cutaneous Biology: Keratin Genes and their Associated Disease: Diversity, Opportunities, and Challenges.皮肤生物学的分子革命：角蛋白基因及其相关疾病：多样性、机遇与挑战
J Invest Dermatol. 2017 May;137(5):e67-e71. doi: 10.1016/j.jid.2016.04.039.
3
Keratins in health and disease.健康与疾病中的角蛋白。
Curr Opin Cell Biol. 2015 Feb;32:73-81. doi: 10.1016/j.ceb.2014.12.008. Epub 2015 Jan 17.
4
Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.遗传性鱼鳞病的修订命名和分类：2009 年索雷兹第一次鱼鳞病共识会议的结果。
J Am Acad Dermatol. 2010 Oct;63(4):607-41. doi: 10.1016/j.jaad.2009.11.020.
5
Story of the original porcupine men; classic descriptions of ichthyosis hystrix.原始豪猪人的故事；鱼鳞癣的经典描述。
Arch Derm Syphilol. 1948 Sep;58(3):349-53. doi: 10.1001/archderm.1948.01520220103009.
6
Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix.来自导致豪猪状鱼鳞病的一种突变的角蛋白尾部新功能的证据。
J Invest Dermatol. 2001 Apr;116(4):511-9. doi: 10.1046/j.1523-1747.2001.01292.x.
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