Unknown

Dataset Information

0

Novel keratin 5 mutation in a family with epidermolysis bullosa simplex.


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.

SUBMITTER: Gao J 

PROVIDER: S-EPMC4665702 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature

altmetric image

Publications

Novel keratin 5 mutation in a family with epidermolysis bullosa simplex.

Gao Jiajia J   Wang Xuebin X   Zheng Fang F   Dong Sufang S   Qiu Xueping X  

Experimental and therapeutic medicine 20151016 6


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 polymera  ...[more]

Similar Datasets

| S-EPMC1801159 | biostudies-other
| S-EPMC7875216 | biostudies-literature
| S-EPMC1964870 | biostudies-other
2008-06-15 | E-GEOD-7663 | biostudies-arrayexpress
| S-EPMC4519992 | biostudies-literature
| S-EPMC5061415 | biostudies-literature
2012-03-10 | E-GEOD-36406 | biostudies-arrayexpress
| S-EPMC7255619 | biostudies-literature
| S-EPMC7694802 | biostudies-literature
2012-03-10 | GSE36406 | GEO