Mouse models reveal the role of pendrin in the inner ear

Abstract

In 1896, Vaughan Pendred, MD, wrote a case report about two siblings that presented with hearing loss and goiter. This initial report was followed over the next 100 years with additional cases, and the condition became known as Pendred syndrome. The underlying gene, SLC26A4, which codes for the protein pendrin, was discovered in 1997, and mutations of SLC26A4 have since been recognized to underlie not only Pendred syndrome but also nonsyndromic hearing loss associated with an enlargement of the vestibular aqueduct (EVA) and variable deficits in vestibular function. In 2001, Dr. Lorraine Everett, in a team led by Dr. Eric Green, reported the first mouse model that recapitulates EVA, deafness, and vestibular dysfunction. This and other mouse models have proven to be tremendously valuable in the quest to understand the role of pendrin in hearing and vestibular function. This chapter summarizes work on these mouse models that are revealing the role of pendrin in the inner ear.