Identification of novel KRT5 gene variants in two Chinese patients with sporadic form of epidermolysis bullosa simplex: A case report

被引：0
|
作者：
Liu, Linli [1 ]
Lu, Qinglian [1 ]
Luo, Hui [1 ]
Yu, Chunshui [1 ]
机构：
[1] Suining Cent Hosp, Dept Dermatol, Suining 629000, Sichuan, Peoples R China
来源：
EXPERIMENTAL AND THERAPEUTIC MEDICINE | 2024年 / 27卷 / 04期
关键词：
epidermolysis bullosa simplex; variant; KRT5; gene; ORGANIZATION; MUTATIONS; GENOTYPE; SEQUENCE;
D O I：
10.3892/etm.2024.12420
中图分类号：
R-3 [医学研究方法]; R3 [基础医学];
学科分类号：
1001 ;
摘要：
Epidermolysis bullosa simplex (EBS), a rare genetic disorder characterized by fragile skin that is prone to blistering and tearing, is primarily caused by mutations in genes encoding keratin proteins, such as KRT5 and KRT14. This study aimed to identify the pathogenic gene variants responsible for the sporadic form of EBS in two Chinese patients. Blood samples were collected from patients and their parents, and next-generation sequencing (NGS) was performed for variant screening. Two novel gene variants were identified within the KRT5 gene: c.1399A>T (p.Ile467Phe) in patient 1 and c.1412G>A (p.Arg471His) in patient 2. These variants were absent in the unaffected parents and a control group of 100 healthy individuals. These two novel gene variants within the KRT5 gene may be responsible for EBS, thus improving understanding of the genetic basis of EBS.
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页数：5
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