Meniere disease is a chronic illness characterized by intermittent episodes of vertigo lasting from minutes to hours, with fluctuating sensorineural hearing loss, tinnitus, and aural pressure (Sajjadi and Paparella, 2008).
Fransen et al. (1999) identified a mutation in the COCH gene (603196.0004) in 1 large Belgian and 2 small Dutch families with autosomal dominant nonsyndromic progressive sensorineural hearing loss associated with vestibular dysfunction (DFNA9; 601369). Greater than 25% ... Fransen et al. (1999) identified a mutation in the COCH gene (603196.0004) in 1 large Belgian and 2 small Dutch families with autosomal dominant nonsyndromic progressive sensorineural hearing loss associated with vestibular dysfunction (DFNA9; 601369). Greater than 25% of the patients affected with this mutation showed additional symptoms, including episodes of vertigo, tinnitus, aural fullness, and hearing loss. Fransen et al. (1999) suggested that the COCH gene may be one of the genetic factors contributing to Meniere disease and that the possibility of a COCH mutation should be considered in patients with Meniere disease symptoms. Usami et al. (2003) performed COCH mutation analysis in a Japanese population of 23 patients from independent families with autosomal dominant hearing impairment, 4 of whom reported vestibular symptoms, and 20 Meniere disease patients. A novel point mutation (603196.0006) was identified in a patient with autosomal dominant hearing loss and vestibular symptoms (DFNA9), but no mutations were identified in the Meniere disease patients. Usami et al. (2003) concluded that mutations of the COCH gene are responsible for a significant fraction of patients with autosomal dominant hearing loss accompanied by vestibular symptoms but not for dominant hearing loss without vestibular dysfunction or sporadic Meniere disease. Sanchez et al. (2004) found no differences in the nucleotide sequence of exons 4 and 5 of the COCH gene in 30 patients with definite Meniere disease as compared to 30 controls.