Kimberling W J, Möller C G, Davenport S, Priluck I A, Beighton P H, Greenberg J, Reardon W, Weston M D, Kenyon J B, Grunkemeyer J A
Center for Hereditary Communication Disorders, Boys Town National Research Hospital, Omaha, Nebraska 68131.
Genomics. 1992 Dec;14(4):988-94. doi: 10.1016/s0888-7543(05)80121-1.
Usher syndrome is the most commonly recognized cause of combined visual and hearing loss in technologically developed countries. There are several different types and all are inherited in an autosomal recessive manner. There may be as many as five different genes responsible for at least two closely related phenotypes. The nature of the gene defects is unknown, and positional cloning strategies are being employed to identify the genes. This is a report of the localization of one gene for Usher syndrome type I to chromosome 11q, probably distal to marker D11S527. Another USH1 gene had been previously localized to chromosome 14q, and this second localization establishes the existence of a new and independent locus for Usher syndrome.
