Defective XXXX gene responsible for Usher syndrome type 1B.

@entity1018 @entity1 @entity1472 @entity37305 @entity19 @entity39575 @entity15439 @entity6391 @entity1274 @entity30262 @entity393 @entity394
@entity15439 represents the association of a @entity393 with @entity6391 and is the most frequent cause of @entity1018 in @entity1 . It is inherited as an autosomal recessive trait which is clinically and genetically heterogeneous. Some @entity1 show abnormal organization of microtubules in the axoneme of their photoreceptors cells (connecting cilium), nasal ciliar cells and sperm cells, as well as widespread degeneration of the organ of Corti. @entity15439 ( @entity37305 ) is characterized by a profound congenital @entity1274 , constant @entity394 and prepubertal onset of @entity6391 . Of three different genes responsible for @entity37305 . @entity30262 maps to 11q13.5 (ref. 10) and accounts for about 75% of @entity37305 @entity1 . The @entity19 deafness @entity39575 (sh1) mutation has been localized to the homologous @entity19 region. Taking into account the cytoskeletal abnormalities in USH @entity1 , the identification of a gene encoding an unconventional myosin as a candidate for @entity39575 (ref. 14) led us to consider the @entity1 homologue as a good candidate for the gene that is defective in @entity30262 . Here we present evidence that a gene encoding @entity30262 is responsible for @entity30262 . Two different premature stop codons, a six-base-pair deletion and two different missense mutations were detected in five unrelated families. In one of these families, the mutations were identified in both alleles. These mutations, which are located at the @entity1472 -terminal end of the motor domain of the protein, are likely to result in the absence of a functional protein. Thus @entity30262 appears as a primary cytoskeletal protein defect. These results implicate the genes encoding other unconventional myosins and their interacting proteins as candidates for other genetic forms of @entity15439 .
