Although a wide spectrum of MYO7A mutations have been identified in Usher Ib patients, four mutations have been reported to cause DFNB2, a recessive deafness without retinal degeneration, and one mutation has been implicated in a single case of dominant nonsyndromic hearing loss (DFNA11).
Identification and functional study of a new missense mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).
Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).
Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).
Showing moderate hearing loss with asymptomatic variable vestibular dysfunction and no retinal degeneration, the DFNA11 phenotype is mildest among phenotypes caused by MYO7A mutations.