Case report: birth of healthy baby after preimplantation genetic diagnosis of junctional epidermolysis bullosa

Abstract

Junctional epidermolysis bullosa (JEB) which is an autosomal recessive rare disease is one of the major form of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. Blisters and skin erosions form in response to minor injury or friction, such as rubbing or scratching. Mutations in LAMA3, LAMB3, LAMC2, and COL17A1 genes may result with the disease. In this study we perform Preimplantation Genetic Diagnosis (PGD) for a Romanian family in which both parents are carriers of JEB.