A heterozygous mutation in <i>ITGB4</i> causing a mild phenotype of junctional epidermolysis bullosa-Reference-Cited by-同舟云学术

A heterozygous mutation in ITGB4 causing a mild phenotype of junctional epidermolysis bullosa

Published:2023-02-22 Issue:4 Volume:40 Page:740-742
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:Pediatric Dermatology

Author:

Li Zhongtao¹²^ORCID,Wang Lin¹²,Wang Sheng¹²

Affiliation:

1. Department of Dermatology, West China Hospital Sichuan University Chengdu China

2. Laboratory of Dermatology Clinical Institute of Inflammation and Immunology (CIII), Frontiers Science Center for Disease‐related Molecular Network, West China Hospital, Sichuan University Chengdu China

Abstract

AbstractMutations in ITGB4 are known to cause autosomal recessive junctional epidermolysis bullosa (JEB), which is manifested by severe blistering and granulation tissue, usually complicating pyloric atresia and even leading to death. ITGB4‐associated autosomal dominant epidermolysis bullosa has rarely been documented. Herein, we identified a heterozygous pathogenic variant (c.433G>T; p.Asp145Tyr) in ITGB4 causing a mild phenotype of JEB in a Chinese family.

Funder

China Postdoctoral Science Foundation

Publisher

Wiley

Subject

Dermatology,Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/pde.15282

Reference5 articles.

1. Dermal eosinophilic infiltrate in junctional epidermolysis bullosa

2. ITGB4 missense mutation in a transmembrane domain causes non-lethal variant of junctional epidermolysis bullosa with pyloric atresia

3. A Nonlethal Case of Junctional Epidermolysis Bullosa and Congenital Pyloric Atresia: Compound Heterozygosity in a Patient with a Novel Integrin Beta 4 Gene Mutation

4. Heterozygosity for a Novel Missense Mutation in theITGB4Gene Associated With Autosomal Dominant Epidermolysis Bullosa

5. Heterozygous variants in the integrin subunit beta 4 gene (ITGB4) cause autosomal dominant nail dystrophy