LAUSR

Junctional 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. To confirm the diagnosis of the JEB family and identify the pathogenic variant. We 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. A 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. The diagnosis of JEB should depend on gene sequencing, and variants at splice sites may also cause the disease.