Mutations in the MITF gene on human chromosome 3 have been reported in
families with Waardenburg Syndrome Type 2 (WS2), an autosomal dominan
t disorder responsible for a large proportion of congenital hearing lo
ss. We examined 16 families with WS2 for mutations in the MITF gene. I
n one four-generation family, we found a novel two-base deletion in ex
on 6 of the MITF gene at nucleotide position 699. This mutation introd
uces a frame-shift and stop codon which leads to a truncation of the p
rotein. This mutation is predicted to have phenotypic consequences not
withstanding evidence of reduced penetrance and heterogeneity within
the family studied.