![]() Īnother mutation is an insertional mutation of the loricrin gene on the EDC on chromosome 1q21. Mutations in connexin 26 are linked to Vohwinkel syndrome, keratitis-ichthyosis deafness and hystrix-like ichthyosis deafness syndromes, palmoplantar keratoderma with deafness, deafness with Clouston-like phenotype, and Bart-Pumphrey syndrome. There are several human connexin disorders caused by mutations in gap junction proteins that result in deafness. The channels formed by connexin 26 are responsible for transporting potassium ions that convert sound waves into electoral nerve impulses and, therefore, normal hearing. ![]() ![]() Specifically, connexin 26 is found in the epidermis of palmoplantar skin, sweat glands, and cochlea. Connexin proteins are ubiquitous throughout the human body, including the cochlea of the inner ear, and are responsible for forming gap junctions or transport channels for signaling molecules between cells. The connexin proteins that compose gap junctions are integral for transporting nutrients, ions, and neurotransmitters from cell to cell. The pathophysiology of classic Vohwinkel syndrome is, in part, explained by the role of connexin proteins in forming the building blocks for gap junctions. This mutation on chromosome 13 is associated with the classic (hearing loss–associated) Vohwinkel syndrome. ![]() One is a missense mutation of the GJB2 gene coding connexin-26, a gap junction protein. ![]() Two mutations of the EDC have been identified in Vohwinkel syndrome. ![]()
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