Detection of novel LAMA3 mutation in Herlitz junctional epidermolysis bullosa in a Jordanian family.

[junctional epidermolysis bullosa]

The Herlitz junctional epidermolysis bullosa (H-JEB ) subtype usually presents as a severe lethal inherited variant of epidermolysis bullosa (EB ) caused by a homozygous mutation in the genes LAMA 3 , LMAB 3 , or LAMAC 3 . Each gene encodes one of the three chains of heterotrimer laminin-332 proteins (including the alpha-3 chain , beta -3 chain and gamma-2 -chain ) responsible for the adherence of the epidermis to the underlying dermis . The aim of this report is to add to the existing knowledge about EB by describing a novel mutation in a gene responsible for genodermatosis . A case of a Jordanian male neonate , born to healthy , first cousin consanguineous parents , who developed nonhealing blistering skin and mucous membrane lesions , crusted erosions with significant granulation tissue and dystrophic nails immediately after birth is described . The patient was diagnosed as having a novel LAMA 3 mutation causing (H-JEB ) by immunofluorescence mapping and molecular analysis . Both parents and this baby 's sibling were shown to be heterozygous carriers of the same mutation . Pre-implantation diagnosis using molecular analysis for subsequent pregnancies in this family is crucial for managing any new pregnancy .