Identification of novel compound heterozygous ITGB4 mutations in a Chinese woman with junctional epidermolysis bullosa without pylori atresia but profound urinary symptoms: A case report and review of the literature

Loss of α6 and β4 integrin expression caused by germ line mutations in ITGA6 and ITGB4 usually leads to junctional epidermolysis bullosa (JEB) with pyloric atresia (PA) (JEB-PA; Online Mendelian Inheritance in Man #226730). However, recent studies have suggested that integrin-associated JEB may occur without PA but with other symptoms of the epithelial tissues. Here, we present a case of a Chinese woman with JEB without PA but with profound urinary symptoms. Mutation analysis revealed that the patient carried compound heterozygous mutations in the ITGB4 gene: a frameshift mutation c.600dupC (p.Phe201Leufs*15) and a novel missense mutation c.599C>G (p.Pro200Arg). Our report not only raises the question of whether the designation JEB-PA is appropriate, but also expands our current knowledge of the ITGB4 mutation spectrum.