ALA397ASP MUTATION OF MYOSIN VIIA GENE SEGREGATING IN A SPANISH FAMILY WITH TYPE-1B USHER-SYNDROME

In the current study, 12 Spanish families affected by type-I Usher syn drome, that was previously linked to chromosome 11q, were screened for the presence of mutations in the N-terminal coding portion of the mot or domain of the myosin VIIA gene by single-strand conformation polymo rphism analysis of the first 14 exons. A mutation (Ala397Asp) segregat ing with the disease was identified, and several polymorphisms were al so detected. It is presumed that the other USH1B mutations in these fa milies could be located in the unscreened regions of the gene.