We have analyzed a total of 449 Pakistani families [[5] and this study] segregating severe to profound congenital recessive deafness and found a total of eight families in which the deafness phenotype is due to mutations of TMPRSS3. Therefore, the relative contribution of TMPRSS3 mutations in the deaf Pakistani population is approximately 1.8%, a significant amount considering the extensive genetic heterogeneity of deafness in this population. Here, TMPRSS3 is linked to deafness.