Related Experiment Video
Updated: Sep 10, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Localized variant of junctional epidermolysis bullosa with R795X mutation
Stefano Bighetti1, Luca Bettolini1, Sara Rovaris1
1Dermatology Department, ASST Spedali Civili di Brescia, University of Brescia.
None:
Epidermolysis bullosa (EB) refers to a group of inherited disorders characterized by skin and mucous membrane fragility. This report presents the case of a 61-year-old Italian male with a localized variant of junctional epidermolysis bullosa (JEB) linked to the R795X mutation in the COL17A1 gene. The patient presented with bullous lesions, erosions, scars, and pigmentary changes on the pretibial areas and dystrophic nails. Genetic analysis confirmed the presence of the COL17A1 variant p.Arg795Ter (R795X) mutation, establishing a rare, localized variant of JEB. This case underscores the criticality of early and accurate diagnosis in the management of rare genetic disorders, as misdiagnosis can lead to ineffective treatments.
Related Concept Videos
Long-patch Base Excision Repair
Nucleotide Excision Repair
Exon Recombination
Exon shuffling follows “splice frame rules.” Each exon...
Point and Frameshift Mutations
Pleiotropy
Desmosomes

