Gene "KRT5"
Found 1 record
Gene information
Gene symbol:
KRT5
See related:
Ensembl: ENSG00000186081, Gene ID: 3852
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
1 
Disorder:
1 
Vriant:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered severity(1)  
Detail：
  • Variant 1:
    KRT5:rs11170164
    Gene:
    KRT5
    Genomic location:
    dbSNP ID:
    rs11170164
    Target disease:
    Epidermolysis bullosa simplex localized type(DOID_0080510)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    Pedigree analysis 
    Effect:
    A recessively inherited mutation modulating the phenotypic expression of EBS caused by a partially dominant mutation and is important for accurate genetic counseling.
    Reference:
    PMID17549391
    Title:
    A novel autosomal partially dominant mutation designated G476D in the keratin 5 gene causing epidermolysis bullosa simplex Weber-Cockayne type: a family study with a genetic twist.
    Species studied:
    Human
    Abstract:
    Epidermolysis bullosa simplex Weber-Cockayne type (EBS-WC) is a genetically inherited skin disease characterized by blistering restricted to the palms and soles. Its inheritance in nearly all kindreds is caused by a dominant-negative mutation in either KRT5 or KRT14, the genes encoding keratin 5 and keratin 14 proteins, respectively. Rarely, recessive mutations have also been found. We described a family with EBS-WC caused by a novel autosomal dominant mutation (G476D) in the keratin 5 gene. One family member was first seen with mucosal erosions and generalized blisters localized on the anogenital area, trunk, face and sites of mechanical trauma. Molecular analysis in this patient showed the presence of an additional mutation, an autosomal recessive (G183E) one, in the same gene. This observation suggests an additional effect of a recessively inherited mutation modulating the phenotypic expression of EBS caused by a partially dominant mutation and is important for accurate genetic counseling.