Bhattacharya G, Miller C, Kimberling WJ, Jablonski MM, Cosgrove D.Is likely to be a component of interstereocilia ankle links in the inner ear Usherin, the defective protein in Usher syndrome type IIA, Adato A, Lefevre G, Delprat B, Michel V, Michalski N, Chardenoux S, Weil D,Įl-Amraoui A, Petit C.It is unclear why some USH2A gene mutations result in Usher syndrome type IIA, while other mutations cause retinitis pigmentosa without hearing loss. Researchers have not determined how a missing or altered usherin protein leads to the hearing impairment and vision loss that are characteristic of Usher syndrome type IIA. Other mutations insert or delete small amounts of DNA in the USH2A gene, which probably impairs the normal function of usherin. These mutations often lead to the production of an abnormally short version of the protein or prevent the cell from making any functional usherin. Several of these mutations change single amino acids in the usherin protein. Specifically, USH2A gene mutations cause a form of the disorder known as Usher syndrome type IIA (USH2A), which accounts for more than half of all cases of Usher syndrome type II. More than 400 mutations in the USH2A gene have been identified in people with Usher syndrome type II, which is characterized by a combination of hearing loss and vision loss associated with retinitis pigmentosa.
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