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BackgroundJunctional epidermolysis bullosa (JEB) is a rare inherited genetic disorder in which pathogenic mutations are mostly located within exons of the associated genes. This report describes a novel variant located at a splice site.ObjectivesTo confirm the diagnosis of the JEB family and identify the pathogenic variant.Materials & MethodsWe collected clinical data and DNA from the members of the family. Whole-exome sequencing (WES) and Sanger sequencing were used to detect gene variants. The pMINI minigene system was used to design in vitro experiments, to confirm the pathogenic variants.ResultsA novel splice-site variant (c.629-12T>G) of the LAMB3 gene was detected in all patients and was shown to be a pathogenic variant.ConclusionThe diagnosis of JEB should depend on gene sequencing, and variants at splice sites may also cause the disease.