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A novel missense mutation of keratin 17 gene in a chinese family with steatocystoma multiplex.

作者信息

Ha Wei-Wei, Wang Jing, Wang Wen, Fu Hong-Yang, Tang Hua-Yang, Tang Xian-Fa, Zhu Jun, Yin Xian-Yong, Yang Sen, Zhang Xue-Jun

机构信息

Institute of Dermatology, Anhui Medical University, Hefei, Anhui, China. ; The MOE Key Laboratory of Dermatology, Hefei, Anhui, China.

Institute of Dermatology, Anhui Medical University, Hefei, Anhui, China. ; The MOE Key Laboratory of Dermatology, Hefei, Anhui, China. ; Department of Dermatology and Venereology, the First Affiliated Hospital, Anhui Medical University, Hefei, Anhui, China.

出版信息

Ann Dermatol. 2013 Nov;25(4):508-10. doi: 10.5021/ad.2013.25.4.508. Epub 2013 Nov 30.

DOI:10.5021/ad.2013.25.4.508
PMID:24371407
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3870228/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e7d9/3870228/2d8a293674bf/ad-25-508-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e7d9/3870228/b9cdda9b2814/ad-25-508-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e7d9/3870228/2d8a293674bf/ad-25-508-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e7d9/3870228/b9cdda9b2814/ad-25-508-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e7d9/3870228/2d8a293674bf/ad-25-508-g002.jpg

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A novel missense mutation of keratin 17 gene in a chinese family with steatocystoma multiplex.一个患有多发性皮脂囊肿的中国家系中角蛋白17基因的新型错义突变。
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引用本文的文献

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Steatocystoma multiplex suppurativa: case report of a rare condition.多发性化脓性皮脂囊肿：罕见病例报告
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2
Steatocystoma multiplex is associated with the R94C mutation in the KRTl7 gene.多发性皮脂囊肿与KRTl7基因中的R94C突变相关。
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本文引用的文献

1
Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.角蛋白17突变会导致多发性皮脂囊肿或2型先天性厚甲症。
Br J Dermatol. 1998 Sep;139(3):475-80. doi: 10.1046/j.1365-2133.1998.02413.x.
2
A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2.人类角蛋白K6b中的一种突变产生了K17疾病先天性厚甲症2型的拟表型。
Hum Mol Genet. 1998 Jul;7(7):1143-8. doi: 10.1093/hmg/7.7.1143.
3
Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex.
J Invest Dermatol. 1997 Feb;108(2):220-3. doi: 10.1111/1523-1747.ep12335315.
4
Keratin 16 and keratin 17 mutations cause pachyonychia congenita.角蛋白16和角蛋白17突变导致先天性厚甲症。
Nat Genet. 1995 Mar;9(3):273-8. doi: 10.1038/ng0395-273.
5
Steatocystoma multiplex treated with isotretinoin: a delayed response.异维A酸治疗多发性脂囊瘤：延迟反应。
Cutis. 1988 Nov;42(5):437-9.