... balance between structure and function of tip-links is regulated by Ca 2+ -ions present in endolymph. Mutations at the Ca 2+ -binding sites of tip-links often lead to congenital deafness, sometimes syndromic defects impairing vision along with hearing. Although such mutations are already identified...

...Susan D. Arden; David A. Tumbarello; Tariq Butt; John Kendrick-Jones; Folma Buss Mutations in myosin VI have been associated with autosomal-recessive (DFNB37) and autosomal-dominant (DFNA22) deafness in humans. Here, we characterise an myosin VI nonsense mutation (R1166X) that was identified...

...Darren Locke; Shengjie Bian; Hong Li; Andrew L. Harris Gap junctions play important roles in auditory function and skin biology; mutations in the Cx26 (connexin26) gene are the predominant cause of inherited non-syndromic deafness and cause disfiguring skin disorders. Mass spectrometry (MS...