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基因的新型点突变与1p36缺失共存。

Novel Point Mutation of Gene Coexisted with 1p36 Deletion.

作者信息

Zheng Yue, Xu Qingfang, Lai Wei

机构信息

Department of Dermato-Venereology, The Third Affiliated Hospital of Sun Yat-Sen University, Guangzhou, P. R. China.

出版信息

Ann Dermatol. 2021 Oct;33(5):463-466. doi: 10.5021/ad.2021.33.5.463. Epub 2021 Sep 8.

DOI:10.5021/ad.2021.33.5.463
PMID:34616129
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8460473/
Abstract

EBSS (epidermolysis bullosa simplex superficialis) is mainly caused by gene mutations which targeted protein as plakophilin1, desmoplakin and keratins. 1p36 gene deleted could cause typical clinical manifestations and might also affect the expression of functional genes in other regions. Here we reported the first case of gene and gene mutation coexisted with 1p36 deletion presented as serious EBSS and 1p36 deletion syndromes and identified a new homozygous mutation in the gene (chr1:201292246 c.1672 T>C) and in the gene (chr6:7580346 c.3923C>T).

摘要

单纯性大疱性表皮松解症（EBSS）主要由针对桥粒斑蛋白1、桥粒芯蛋白和角蛋白等蛋白质的基因突变引起。1p36基因缺失可导致典型临床表现，也可能影响其他区域功能基因的表达。在此，我们报告了首例基因和基因突变与1p36缺失共存的病例，表现为严重的EBSS和1p36缺失综合征，并在基因（chr1:201292246 c.1672 T>C）和基因（chr6:7580346 c.3923C>T）中鉴定出一个新的纯合突变。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d76/8460473/969d1d525d80/ad-33-463-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d76/8460473/29c796a2edb0/ad-33-463-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d76/8460473/2d6cbe13eca8/ad-33-463-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d76/8460473/969d1d525d80/ad-33-463-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d76/8460473/29c796a2edb0/ad-33-463-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d76/8460473/2d6cbe13eca8/ad-33-463-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d76/8460473/969d1d525d80/ad-33-463-g003.jpg

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J Dermatol. 2019 Jul;46(7):622-625. doi: 10.1111/1346-8138.14925. Epub 2019 May 20.
3
Keratins and epidermolysis bullosa simplex.
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J Cell Physiol. 2018 Jan;234(1):289-297. doi: 10.1002/jcp.26898. Epub 2018 Aug 4.
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