Detection of a novel Cys628STOP mutation of the myosin VIIA gene in Usher syndrome type Ib

A Spanish family with three Usher I syndrome-affected members was linked to markers located on chromosome 11q. A search for mutations on the myosin VI IA gene revealed a novel mutation (Cys628STOP) on exon 16 segregating with the disorder in a homozygous state. This nonsense mutation could be respons ible for the disease since it leads to a truncated protein that presumably has no function. (C) 1998 Academic Press.