A Novel Mutation p.L461P in KRT5 Causing Localized Epidermolysis Bullosa Simplex.

ABSTRACT:

Background

Epidermolysis bullosa (EB) is a rare genetic disease with widely different clinical manifestations, but the relationship between genotype and phenotype is not fully understood. In the present study, we recruited a Chinese family in which two members had been diagnosed with localized EB simplex (EBS), with clinical manifestation, including blisters and erosions on the soles of the feet since infancy.

Objective

To identify and confirm the genetic variation in a Chinese family diagnosed as localized EBS.

Methods

Our study included two patients, other healthy members of the family, and 100 normal controls. Genomic DNA samples were isolated from each participant, and then polymerase chain reaction (PCR) direct sequencing was performed.

Results

The results

SUBMITTER: Jiang X 

PROVIDER: S-EPMC7875216 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature