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

Shamsudheen K Vellarikkal; Ashok Patowary; Meghna Singh; Renu Kumari; Mohammed Faruq; Dilip C Master; Sridhar Sivasubbu; Vinod Scaria

doi:10.1038/hgv.2014.7

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

Hum Genome Var. 2014 Sep 4:1:14007. doi: 10.1038/hgv.2014.7. eCollection 2014.

Authors

Shamsudheen K Vellarikkal¹, Ashok Patowary², Meghna Singh¹, Renu Kumari¹, Mohammed Faruq¹, Dilip C Master³, Sridhar Sivasubbu¹, Vinod Scaria⁴

Affiliations

¹ Genomics and Molecular Medicine Unit, CSIR Institute of Genomics and Integrative Biology, Delhi, India; Academy of Scientific and Innovative Research (AcSIR), Anusandhan Bhawan, New Delhi, India.
² Genomics and Molecular Medicine Unit, CSIR Institute of Genomics and Integrative Biology , Delhi, India.
³ Department of Anatomy, Government Medical College , Baroda, India.
⁴ Academy of Scientific and Innovative Research (AcSIR), Anusandhan Bhawan, New Delhi, India; GN Ramachandran Knowledge Center for Genome Informatics, CSIR Institute of Genomics and Integrative Biology, Delhi, India.

Abstract

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.