Identification of a Novel Pathogenic Missense Mutation in the Fibronectin type III Domain of ITGB4 Gene in Epidermolysis Bullosa with Pyloric Atresia

The severity of manifestation of Epidermolysis bullosa(EB) ranges from mild to fatal, of which Epidermolysis bullosa-Pyloric Atresia(EB-PA) is of a severe kind. Using Exome sequencing and subsequent Bioinformatic analysis, from a family, we identified a 'novel', missense mutation in the Fibronactin type III domain of ITGB4 gene which in the recessive mode is severely pathogenic to two siblings, but do not show clinical symptoms in the heterozygous parents.