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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.

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

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