Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness

Genomic DNA was extracted from venous blood samples according to a standard protocol. 11 Linkage to known recessive deafness loci (DFNBs) and refinement of the DFNB8/B10 region in linked families was performed on an ABI-377 sequencer (PE Applied Biosystems) using marker information provided by the Hereditary Hearing Loss Homepage and by Berry et al. 12 Linkage analysis was conducted with the FASTLINK version of the LINKAGE program package. 13 14 Five of the families showed potential linkage to the DFNB8/B10 locus on chromosome 21q22.3 (fig 1 ). [...]it is possible that some of the North American deaf analysed do not actually have a genetic cause for their deafness, while deafness in the Pakistani families is most probably genetic.