ABSTRACT
Background: 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. Objectives: To confirm the diagnosis of the JEB family and identify the pathogenic variant. Materials & Methods: 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. Results: 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. Conclusion: The diagnosis of JEB should depend on gene sequencing, and variants at splice sites may also cause the disease.
