Fig. 1.

A Participants included in each analysis. We received data about 148 individuals in 135 families from 16 centers in 6 countries. 21 had variants in other known HL-related genes, had no TMPRSS3 genotype reported, or were heterozygous for TMPRSS3 mutations and were excluded from analysis. 78 participants had audiometric testing reported. 74 participants had cochlear implants and 39 of these reported the results of speech perception testing after cochlear implantation. B Locations of the TMPRSS3 variants in the data set. There were 48 unique TMPRSS3 variants in the data set. Variants included nonsense, missense, splice site, and indel frameshift variants. Variants in red were associated with DFNB10 and green with DFNB8. Variants in blue were associated with both DFNB8 and DFNB10. The black ‘X’ indicates loss of function variants and the black circle indicates missense