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

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 sug...

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Autores principales: Vellarikkal, Shamsudheen K, Patowary, Ashok, Singh, Meghna, Kumari, Renu, Faruq, Mohammed, Master, Dilip C, Sivasubbu, Sridhar, Scaria, Vinod
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2014
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785511/
https://www.ncbi.nlm.nih.gov/pubmed/27081501
http://dx.doi.org/10.1038/hgv.2014.7
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author Vellarikkal, Shamsudheen K
Patowary, Ashok
Singh, Meghna
Kumari, Renu
Faruq, Mohammed
Master, Dilip C
Sivasubbu, Sridhar
Scaria, Vinod
author_facet Vellarikkal, Shamsudheen K
Patowary, Ashok
Singh, Meghna
Kumari, Renu
Faruq, Mohammed
Master, Dilip C
Sivasubbu, Sridhar
Scaria, Vinod
author_sort Vellarikkal, Shamsudheen K
collection PubMed
description 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.
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spelling pubmed-47855112016-04-14 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 Patowary, Ashok Singh, Meghna Kumari, Renu Faruq, Mohammed Master, Dilip C Sivasubbu, Sridhar Scaria, Vinod Hum Genome Var Data Report 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. Nature Publishing Group 2014-09-04 /pmc/articles/PMC4785511/ /pubmed/27081501 http://dx.doi.org/10.1038/hgv.2014.7 Text en Copyright © 2014 The Japan Society of Human Genetics http://creativecommons.org/licenses/by-nc-sa/3.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 3.0 Unported License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/3.0/
spellingShingle Data Report
Vellarikkal, Shamsudheen K
Patowary, Ashok
Singh, Meghna
Kumari, Renu
Faruq, Mohammed
Master, Dilip C
Sivasubbu, Sridhar
Scaria, Vinod
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
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
title_full 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
title_fullStr 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
title_full_unstemmed 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
title_short 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
title_sort 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
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785511/
https://www.ncbi.nlm.nih.gov/pubmed/27081501
http://dx.doi.org/10.1038/hgv.2014.7
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