Usher Syndrome Type 1F (part of Ashkenazi Jewish FlexPanel)
Usher syndrome type 1F (USH1F) belongs to a group of autosomal recessive disorders characterized by variable degree of hearing impairment, balance problem, and progressive loss of vision due to
retinitis pigmentosa.
PrintUsher syndrome type 1F (USH1F) belongs to a group of autosomal recessive disorders characterized by variable degree of hearing impairment, balance problem, and progressive loss of vision due to
retinitis pigmentosa.
USH1F occurs at increased frequency in individuals of Ashkenazi Jewish descent, and the p.R245X mutation in the PCDH15 gene may be the most common cause of Usher syndrome type 1 in the Ashkenazi Jewish population. PCDH15 encodes protocadherin-15, a protein that is expressed in the retina and cochlea. Protocadherin-15 is involved in the morphogenesis and cohesion of stereocilia bundles, as well as the maintenance and function of retinal photoreceptor cells. In the Ashkenazi Jewish population the carrier rate is 1 in 147. Ashkenazi Jewish individuals with a negative family history who test negative for the p.R245X mutation in PCDH15 have a revised carrier risk of 1 in 584.
Analysis of the p.R245X in PCDH15 by pyrosequencing. This test can be ordered as part of the Ashkenazi Jewish FlexPanel.
The mutation detection rate in the Ashkenazi Jewish population is 75%.