Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

Abstract

Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American patient. Our aim is to establish extensive genotype–phenotype correlations, particularly in relation to the causes of death. Molecular studies enable us to confirm the disease's etiology and establish the causes of death with certain pathogenic variants. This information provides healthcare professionals with valuable guidelines for management and allows for the development of appropriate therapeutic strategies.