Variation of COL7A1 gene in dystrophic epidermolysis bullosa pruriginosa.
10.3760/cma.j.cn511374-20201203-00842
- VernacularTitle:痒疹样营养不良型大疱性表皮松解症的
COL7A1基因变异
- Author:
Yi SHAO
1
,
2
;
Jianbo WANG
;
Shasha ZHANG
;
Jinfa DOU
;
Chen WANG
;
Shoumin ZHANG
;
Zhenlu LI
Author Information
1. Department of Dermatology, Henan Provincial People's Hospital, Zhengzhou University People's Hospital, Henan University People's Hospital, Zhengzhou, Henan 450003, China. wangjianbo1020@163.com
2. henanpifu@sina.com.
- Publication Type:Journal Article
- MeSH:
Collagen Type VII/genetics*;
Epidermolysis Bullosa Dystrophica/genetics*;
Female;
Humans;
Male;
Mutation;
Pedigree;
Phenotype
- From:
Chinese Journal of Medical Genetics
2022;39(5):518-521
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To perform gene mutation analysis in a Chinese pedigree with dystrophic epidermolysis bullosa pruriginosa (DEB-Pr), and explore phetotype, genotype, and genotypes-phenotypes relationship of DEB-Pr.
METHODS:Potential variants of the COL7A1 gene were detected by skin targeted sequencing panel and verified by Sanger sequencing. The pathogenicity of the variation was analyzed.
RESULTS:Compound heterozygous variants, c.4128delT and c.8234G>A, were detected in the COL7A1 gene of the two patients. The c.4128delT(p.Pro1376fs) variant was derived from their mother and unreported previously. According to the American College of Medical Genetics and Genomics Standards and Guidelines, it was suggested to be a pathogenic mutation. The c.8234G>A(p.Arg2745Gln) variant was derived from their father, and possibly is a pathogenic variation.
CONCLUSION:In this study, the compound heterozygous variants of c.4128delT(p.Pro1376fs) and c.8234G>A(p.Arg2745Gln) of the COL7A1 gene probably underlies the disease in this patient and his sister. And our study expands the database on mutations of DEB-Pr.
