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.
Keywords: splice-site variant; junctional epidermolysis bullosa; LAMB3 gene; minigene.