Журнал генетических расстройств и генетических отчетов

Novel Variant Documentation of Dystrophic Epidermolysis Bullosa by Whole Exome Sequencing

Priyanka Vishwakarma1, Mayank Nilay, Ashish Dubey, Shashank Upadhyay, Amit Joshi, Deepika Kalo and Vishal Kumar Mishra

Epidermolysis Bullosa (EB) is an inherited disorder. It involves the heterogeneous group of the rare genetic dermatoses which are characterized by the mucocutaneous brittleness and the blister development and it is often inducible by the minimal trauma. A wide-ranging phenotypic diversity has been defined, with possibly severe extra-cutaneous appearances, morbidity and the mortality in some cases. In this study we have documented a case of the Epidermolysis bullosa with a novel variant in COL7A1 detected through whole exome sequencing. This novel mutation has been authenticated by the Sanger sequencing. This case highlights the importance of whole exome sequencing for confirmatory molecular diagnosis and adds a novel variant to the genotypic spectrum of COL7A1 from the Indian Subcontinent.