Publications‎ > ‎

Exome sequencing reveals a novel mutation, p.L325H, in the KRT5 gene associated with autosomal dominant Epidermolysis Bullosa Simplex Koebner type in a large family from western India

posted Nov 1, 2014, 12:19 AM by Vinod Scaria   [ updated Jun 19, 2016, 7:42 AM ]
Shamsudheen K Vellarikkal, Ashok Patowary, Meghna Singh, Renu Kumari, Mohammed Faruq, Dilip C Master, Sridhar Sivasubbu& Vinod Scaria

We report a large, non-consanguineous family comprising five generations of individuals residing in Gujarat, India affected with localized Epidermolysis Bullosa Simplex (EBS) Koebner type. We analyzed 14 individuals including 9 affected individuals from this family. Exome sequencing in two cases suggested a novel non-synonymous variation, p.L325H, in the KRT5 gene. The present analysis also reports the first causative mutation of EBS Koebner type from India.

Vellarikkal SK, Patowary A, Singh M, Kumari R, Faruq M, Master DC, Sivasubbu S*and Scaria V*