ASSOCIATION OF UNCONVENTIONAL MYOSIN MYO15 MUTATIONS WITH HUMAN NONSYNDROMIC DEAFNESS DFNB3

DFNB3, a locus for nonsyndromic sensorineural recessive deafness, maps to a 3-centimorgan interval on human chromosome 17p11.2, a region tha t shows conserved synteny with mouse shaker-2. A human unconventional myosin gene, MYO15, was identified by combining functional and positio nal cloning approaches in searching for shaker-2 and DFNB3. MYO15 has at least 50 exons spanning 36 kilobases. Sequence analyses of these ex ons in affected individuals from three unrelated DFNB3 families reveal ed two missense mutations and one nonsense mutation that cosegregated with congenital recessive deafness.