Compound heterozygous variants in PCDH15 non-coding regions in an Usher Syndrome Type 1F patient: minigene assay reveals pathogenicity of c.3123-1G>C

Through clinical genetic screening of a family with USH, we identified two variants in the PCDH15 gene. Minigene assay can be used for pathogenicity analysis of variants in long genes such as PCDH15. Our data suggest that PCDH15 c.3123-1G>C is a pathogenic mutation for Usher Syndrome Type 1F (USH1F).