Donaudy et al. (2003) screened the MYO1A gene, which maps within the DFNA48 locus, for mutations in patients from the large Italian family reported by D'Adamo et al. (2003) and in an additional 230 hearing-impaired patients. They identified ... Donaudy et al. (2003) screened the MYO1A gene, which maps within the DFNA48 locus, for mutations in patients from the large Italian family reported by D'Adamo et al. (2003) and in an additional 230 hearing-impaired patients. They identified a nonsense mutation, a trinucleotide insertion, and 6 missense mutations in 8 unrelated patients from central and southern Italy affected by sensorineural bilateral hearing loss of variable degree, usually ranging from moderate to severe but never profound. However, Donaudy et al. (2003) did not identify any mutation in the coding region or exon-intron boundaries of the MYO1A gene in the large Italian family in which the DFNA48 locus had been originally mapped. They suggested that a deletion or a mutated MYO1A allele with a change in an unanalyzed region, such as an intron or promoter, may be present in this family. Alternatively, a mutation in another gene in the 12q13-q14 region could not be ruled out.