Variable proportions of mutant and normal transcripts have been reported to be tissue-dependent in atypical Usher syndrome type I patients [22], and thus the splicing of CDH23 is likely to show different regulation in whole blood and cochlea or retina, consequently explaining the milder phenotype (non-progressive RP and no vestibular dysfunction) of the proband, altogether leading to the reassignation of the clinical entity from USH2 into atypical USH1. The gene discussed is USH2A; the disease is Usher syndrome type 1.