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一名患有表皮松解性鱼鳞病的新生儿中发现一种新的KRT1基因c.1433A>G p.(Glu478Gly)突变。

A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis.

作者信息

Caroppo Francesca, Cama Elena, Salmaso Roberto, Bertolin Cinzia, Salviati Leonardo, Belloni Fortina Anna

机构信息

Pediatric Dermatology Unit Department of Medicine DIMED University of Padova Padova Italy.

Surgical Pathology & Cytopathology Unit Department of Medicine DIMED University of Padova Padova Italy.

出版信息

Clin Case Rep. 2020 Sep 18;8(12):3079-3081. doi: 10.1002/ccr3.3341. eCollection 2020 Dec.

DOI:10.1002/ccr3.3341
PMID:33363884
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7752546/
Abstract

Epidermolytic Ichthyosis is a rare genodermatosis related to point mutations affecting the genes encoding for keratin 1 or keratin 10. We report a case of Epidermolytic Ichthyosis in a newborn with a novel mutation (c.1433A>G) of KRT1 gene.

摘要

表皮松解性鱼鳞病是一种罕见的遗传性皮肤病，与影响角蛋白1或角蛋白10编码基因的点突变有关。我们报告了一例新生儿表皮松解性鱼鳞病病例，该病例存在KRT1基因的一种新突变（c.1433A>G）。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6d00/7752546/09ab1486d70a/CCR3-8-3079-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6d00/7752546/8404a0eade8a/CCR3-8-3079-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6d00/7752546/63258bb3c0c4/CCR3-8-3079-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6d00/7752546/09ab1486d70a/CCR3-8-3079-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6d00/7752546/8404a0eade8a/CCR3-8-3079-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6d00/7752546/63258bb3c0c4/CCR3-8-3079-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6d00/7752546/09ab1486d70a/CCR3-8-3079-g003.jpg

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本文引用的文献

1
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Clin Cosmet Investig Dermatol. 2019 May 8;12:333-344. doi: 10.2147/CCID.S166849. eCollection 2019.
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Epidermolytic Ichthyosis without Keratin 1 or 10 Mutations: A Case Report.无角蛋白1或10突变的表皮松解性鱼鳞病：一例报告
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Phenotypic variation in epidermolytic ichthyosis: clinical and functional evaluation of the novel p.(Met339Lys) mutation in the L12 domain of KRT1.
单基因遗传性皮肤病的遗传与相关犬种
Vet Sci. 2022 Aug 15;9(8):433. doi: 10.3390/vetsci9080433.
表皮松解性鱼鳞病的表型变异：KRT1基因L12结构域新型p.(Met339Lys)突变的临床及功能评估
Exp Dermatol. 2015 Nov;24(11):883-5. doi: 10.1111/exd.12786. Epub 2015 Aug 21.
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Mild phenotype of epidermolytic hyperkeratosis mimicking ichthyosis bullosa of Siemens is related to specific mutation in 2B domain of KRT1.
J Dermatol Sci. 2013 Jun;70(3):220-2. doi: 10.1016/j.jdermsci.2013.03.001. Epub 2013 Mar 14.
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Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis.扩展角蛋白突变数据库：28 例表皮松解性鱼鳞病患者的新的和反复出现的突变以及基因型-表型相关性。
Br J Dermatol. 2011 Feb;164(2):442-7. doi: 10.1111/j.1365-2133.2010.10096.x.
6
Bullous congenital ichthyosiform erythroderma: a sporadic case produced by a new KRT10 gene mutation.大疱性先天性鱼鳞病样红皮病：由一种新的KRT10基因突变导致的散发病例。
Pediatr Dermatol. 2009 Jul-Aug;26(4):489-91. doi: 10.1111/j.1525-1470.2009.00969.x.