Autosomal dominant auditory neuropathy 1

Auditory neuropathy is a type of hearing loss defined by the preservation of cochlear outer hair cell function and abnormal or absent auditory brainstem responses. Auditory neuropathy may accompany peripheral neuropathy in a variety of dominant syndromes such as Charcot-Marie-Tooth disease (Satya-Murti et al., 1979) and has been observed in Friedreich ataxia (Satya-Murti et al., 1980). Auditory neuropathy unassociated with peripheral neuropathy most commonly occurs as a sporadic or recessive trait; see, for example, 601071. Genetic Heterogeneity of Autosomal Dominant Auditory Neuropathy See also AUNA2 (620384), caused by mutation in the ATP11A gene (605868) on chromosome 13q34, and AUNA3 (619832), caused by mutation in the TMEM43 gene (612048) on chromosome 3p25. [from OMIM]