A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
TLDR A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
The study identified a novel mutation in the Connexin 26 (CX26) gene in a patient with Keratitis–Ichthyosis–Deafness (KID) syndrome, characterized by symptoms such as hyperkeratosis, erythroderma, hypotrichosis, and mask-like erythrokeratoderma. The mutation, a GAC to AAC change at codon 50 resulting in a D50N substitution, was absent in 164 control alleles and the patient's family, indicating it was not a polymorphism. This mutation implicated CX26 in normal corneal function, hair growth, and carcinogenesis, and suggested that disturbed gap junction function might underlie symptoms like deafness and erythroderma, while specific amino acid residues could influence keratitis and cancer-proneness.
