Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction

Sequence analysis of the PTPRQ gene was performed in nonconsangulneous Dutch family and consanguineous Moroccan family to identify sensorineural autosomal-recessive nonsyndromic hearing impairment (arNSHI). The results revealed that hearing loss was accompanied by vestibular dysfunction in all affected individuals and also indicated that though PTPPQ was expressed in many tissues, no symptoms other than deafness were observed in patients.