Department of Dermatology, West China Hospital, Sichuan University, Chengdu, China.
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.
Pediatr Dermatol. 2023 Jul-Aug;40(4):740-742. doi: 10.1111/pde.15282. Epub 2023 Feb 22.
Mutations 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.
ITGB4 基因突变可导致常染色体隐性交界型大疱性表皮松解症（JEB），表现为严重的水疱和肉芽组织，常合并幽门闭锁，甚至导致死亡。ITGB4 相关的常染色体显性遗传性表皮松解症则很少见有文献报道。本研究在一个中国家庭中发现 ITGB4 的杂合致病性变异（c.433G>T；p.Asp145Tyr），导致 JEB 的轻度表型。
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