Deep intronic homozygous variation in PSMC3 causes a syndromic neurosensory disorder combining deafness and cataract

The association of congenital deafness and early-onset cataracts inherited as a recessive trait is a rare combination described in only a few syndromes with very few genes identified to date. We propose that the PSMC3 proteasome subunit dysfunction leads to a novel human syndrome that includes early-onset cataracts and deafness and suggest that Rpt5 plays a major role in inner ear and lens development.EGA study EGAS00001003942