title: 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.
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.
authors.affiliation: 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.
authors.forename: Shamsudheen K
authors.initials: SK
authors.lastname: Vellarikkal
authors.affiliation: Genomics and Molecular Medicine Unit, CSIR Institute of Genomics and Integrative Biology , Delhi, India.
authors.forename: Ashok
authors.initials: A
authors.lastname: Patowary
authors.affiliation: 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.
authors.forename: Meghna
authors.initials: M
authors.lastname: Singh
authors.affiliation: 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.
authors.forename: Renu
authors.initials: R
authors.lastname: Kumari
authors.affiliation: 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.
authors.forename: Mohammed
authors.initials: M
authors.lastname: Faruq
authors.affiliation: Department of Anatomy, Government Medical College , Baroda, India.
authors.forename: Dilip C
authors.initials: DC
authors.lastname: Master
authors.affiliation: 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.
authors.forename: Sridhar
authors.initials: S
authors.lastname: Sivasubbu
authors.affiliation: 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.
authors.forename: Vinod
authors.initials: V
authors.lastname: Scaria