Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix

Conclusions
At least some cases of PSEK result from loss-of-function mutations in KRT83. Heterozygous missense substitutions in KRT83 have been implicated in autosomal dominant monilethrix, a rare hair disorder. Our findings indicate that at least some cases of autosomal recessive PSEK and autosomal dominant monilethrix are allelic, respectively resulting from loss-of-function and missense mutations in the KRT83 gene. Together, these findings indicate that different types of mutations in KRT83 can result in quite different skin and hair phenotypes.

Source: Journal of Medical Genetics - February 17, 2017 Category: Genetics & Stem Cells Authors: Shah, K., Ansar, M., Mughal, Z.-u.-N., Khan, F. S., Ahmad, W., Ferrara, T. M., Spritz, R. A. Tags: Genotype-phenotype correlations Source Type: research