Dominantly Inherited Low-Frequency Hearing Loss

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Abstract
MOST of the recognized forms of hereditary deafness can be distinguished from one another by the associated phenotypic manifestations of the mutant gene in question. For example, autosomal dominant deafness may be seen in association with symphalangism, nephritis, pigmentary abnormalities, or ectodermal dysplasia; recessive deafness may occur with goiter, retinitis pigmentosa, polyneuritis, electrocardiographic abnormalities, or piebaldness; and sex-linked deafness may be seen in Hunter's syndrome, in Norrie's syndrome, or in association with pigmentary abnormalities.1A form of hereditary deafness has recently been described, however, which appears to be characterized only by its autosomal dominant mode of inheritance and the unusual audiologic findings.2Affected individuals show a sensorineural hearing loss at low frequencies with normal or near-normal hearing thresholds at higher frequencies. The purpose of this report is to describe and analyze the distinctive audiologic findings of this new genetic entity. Methods A medical history was obtained and a

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