Palmoplantar Keratoderma and Erythrokeratoderma
Gene: KLF4
PMID: 35168889 - 3 patients from 2 unrelated families with palmoplantar keratoderma. Two variants found, fs and a missense.
Functional studies on patient skin biopsy shows "slightly but significantly decreased" protein expression in both children.
Gene was shown to bind the DSG1 promoter and regulate expression. Transfected cells showed reduced DSG1 expression.
PMID: 10431239 - mouse K/O died shortly after birth due to loss of skin barrier function
gnomAD: single het fs in the population
Sources: LiteratureCreated: 5 May 2022, 2:04 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hereditary palmoplantar keratoderma MONDO:0019272, KFL4-related
Publications
Mode of inheritance for gene: KLF4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: klf4 has been classified as Green List (High Evidence).
Gene: klf4 has been classified as Green List (High Evidence).
Gene: klf4 has been classified as Red List (Low Evidence).
gene: KLF4 was added gene: KLF4 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature Mode of inheritance for gene: KLF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KLF4 were set to PMID: 35168889; 10431239 Phenotypes for gene: KLF4 were set to Hereditary palmoplantar keratoderma MONDO:0019272, KFL4-related Review for gene: KLF4 was set to GREEN