Schraders et al. (2010) reported 2 unrelated families with autosomal recessive sensorineural hearing loss and vestibular dysfunction. In a Dutch family, 2 adult sibs had bilateral, symmetric, sensorineural, hearing loss that was likely congenital. Neither patient developed normal ... Schraders et al. (2010) reported 2 unrelated families with autosomal recessive sensorineural hearing loss and vestibular dysfunction. In a Dutch family, 2 adult sibs had bilateral, symmetric, sensorineural, hearing loss that was likely congenital. Neither patient developed normal speech, and both reported progression of hearing loss from severe to profound from 30 and 45 years of age and after, respectively. In addition, both reported delayed motor development. The second consanguineous Moroccan family had 2 affected sibs with bilateral, symmetric, sensorineural, progressive, and likely congenital hearing loss. Electronystagmography in caloric and rotary testing in both families demonstrated impaired vestibular function.
In affected members of 2 unrelated families with autosomal recessive nonsyndromic sensorineural hearing loss with vestibular dysfunction (DFNB84A), Schraders et al. (2010) identified respective homozygous mutations in the PTPRQ gene (603317.0001 and 603317.0002).