Prenatal Test for Devastating Skin Disorder

Severe forms of PA-EB are characterized by mutations in the genes encoding two proteins, plectin and its interactor, integrin alpha6beta4. Using immunofluorescence, Marina D'Alessio and colleagues found strong expression of these proteins in the first trimester to the end of pregnancy in normal pregnancies, and absent expression in fetuses with PA-JEB. Genetic analysis of both affected and healthy-carrier fetuses identified fourteen gene mutations being responsible for impairing the involved proteins, of which seven are previously unreported.

The team believes their new is test safe for fetuses, as well as easy and accessible to laboratories equipped for immunohistological analyses. Prenatal diagnoses based on protein detection, such as immunofluorescence or proteomic analyses, are useful when DNA-based diagnoses are unavailable. Looking onward, similar procedures might be devised for diagnosing other conditions, such as epidermolysis bullosa with muscular dystrophy, which is similarly linked to genetic mutations in plectin.

Author contact:

Guerrino Meneguzzi (University of Nice-Sophia Antipolis, Nice, France)
Email: meneguzz@unice.fr

Abstract available online.

(C) Journal of Investigative Dermatology press release.

Message posted by: Trevor M. D'Souza