Truncating Variants in the Majority of the Cytoplasmic Domain of Are Unlikely to Cause Usher Syndrome 1F

Loss of function variants in the PCDH15 gene can cause Usher syndrome type 1F, an autosomal recessive disease associated with profound congenital hearing loss, vestibular dysfunction, and retinitis pigmentosa. The Ashkenazi Jewish population has an increased incidence of Usher syndrome type 1F (founder variant p.Arg245X accounts for 75% of alleles), yet the variant spectrum in a panethnic population remains undetermined. We sequenced the coding region and intron-exon borders of PCDH15 using next-generation DNA sequencing technology in approximately 14,000 patients from fertility clinics.

Source: Journal of Molecular Diagnostics - November 1, 2014 Category: Pathology Authors: Cynthia Perreault-Micale, Alexander Frieden, Caleb J. Kennedy, Dana Neitzel, Jessica Sullivan, Nicole Faulkner, Stephanie Hallam, Valerie Greger Tags: Regular article Source Type: research