Elucidating the Phenotype and Genotype Spectrum of Junctional Epidermolysis Bullosa in India

Highlights Junctional epidermolysis bullosa (JEB) is a clinically and genetically heterogenous group of genetic skin disorders.• We show the utility of WES in understanding the phenotype and genotype spectrum in four Indian JEB families.• Computational modeling studies have been used to understand the probable molecular consequence of a missense mutation on the structure-function relationship of lamininβ3 protein.• This is the first report documenting the phenotype-genotype correlations of JEB patients from India. Citation: Yenamandra VK, Vellarikkal SK, Kumar M, Chowdhury MR, Jayarajan R, Verma A, Scaria V, Sivasubbu S, Ray SB, Dinda AK, Kabra M, Kaur P, Sharma VK, Sethuraman G Application of Whole Exome Sequencing in Elucidating the Phenotype and Genotype Spectrum of Junctional Epidermolysis Bullosa: A Preliminary Experience of a Tertiary Care Centre in India J Dermatol Sci (2017) in press.