Novel keratin 5 mutation in a family with epidermolysis bullosa simplex

Gao,Jiajia; Wang,Xuebin; Zheng,Fang; Dong,Sufang; Qiu,Xueping

doi:10.3892/etm.2015.2811

December-2015 Volume 10 Issue 6

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December-2015 Volume 10 Issue 6

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Article

Novel keratin 5 mutation in a family with epidermolysis bullosa simplex

Authors:
- Jiajia Gao
- Xuebin Wang
- Fang Zheng
- Sufang Dong
- Xueping Qiu
View Affiliations / Copyright

Affiliations: Center for Gene Diagnosis, Zhongnan Hospital of Wuhan University, Wuhan, Hubei 430071, P.R. China
Pages: 2432-2436
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Published online on: October 16, 2015

https://doi.org/10.3892/etm.2015.2811
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Abstract

The aim of the present study was to identify the causative gene defects associated with epidermolysis bullosa simplex (EBS) in a pedigree. The diagnosis of EBS was confirmed in two patients from that pedigree based on the clinical manifestations, histopathological examination of the skin and family history. Blood samples were collected from 6 family members and 100 heathy controls, and genomic DNA and RNA were extracted. Mutation analysis of the keratin 5 gene (KRT5) was conducted using polymerase chain reaction (PCR) direct sequencing and PCR‑restriction fragment length polymorphism. In the pedigree, the results of PCR direct sequencing revealed a heterozygous missense mutation in codon 202 of exon 2 of KRT5 (c.605T>A), which led to an amino acid change (p.L202Q) in the patients with EBS but was absent from the unaffected family members and 100 population controls. In conclusion, a novel missense mutation in the KRT5 gene was identified that had a pathogenic role in EBS in the population studied, which enriches the germline mutation spectrum of the KRT5 gene.

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Journals

International Journal of Molecular Medicine

International Journal of Oncology

Molecular Medicine Reports

Oncology Reports

Experimental and Therapeutic Medicine

Oncology Letters

Biomedical Reports

Molecular and Clinical Oncology

World Academy of Sciences Journal

International Journal of Functional Nutrition

International Journal of Epigenetics

Medicine International

Novel keratin 5 mutation in a family with epidermolysis bullosa simplex

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