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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.

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.

SUBMITTER: Vellarikkal SK

PROVIDER: S-EPMC4785511 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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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.

Vellarikkal Shamsudheen K SK Patowary Ashok A Singh Meghna M Kumari Renu R Faruq Mohammed M Master Dilip C DC Sivasubbu Sridhar S Scaria Vinod V

Human genome variation 20140904

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. ...[more]

PMID: 27081501

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A Novel Mutation p.L461P in <i>KRT5</i> Causing Localized Epidermolysis Bullosa Simplex.

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Project description:This SuperSeries is composed of the SubSeries listed below.

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