Post SARS-CoV-2 Vaccination Effluvium
September 2022
in “
European Journal of Dermatology
”
Studysummary This study identified a novel pathogenic splice-site variant of the LAMB3 gene in patients with junctional epidermolysis bullosa, highlighting the importance of gene sequencing for diagnosis.
Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer
The study focused on a family with Junctional epidermolysis bullosa (JEB), a rare genetic disorder, to confirm their diagnosis and identify the pathogenic variant. Researchers collected clinical data and DNA from the family members, utilizing whole-exome sequencing and Sanger sequencing to detect gene variants. They discovered a novel splice-site variant (c.629-12T>G) in the LAMB3 gene, which was present in all patients and confirmed as pathogenic through in vitro experiments using the pMINI minigene system. The study concluded that diagnosing JEB should rely on gene sequencing, as splice site variants can also cause the disease.
