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Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss
American Journal of Human Genetics
Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. --- Old month value: Jun
Microdeletions Glu767(1-bp del), Thr967(1-bp del), and Leu1446(2-bp del) in the human USH2A gene have been reported to cause Usher syndrome type II, a disorder characterized by retinitis pigmentosa (RP) and mild-to-severe hearing loss. Each of these three frameshift mutations is predicted to lead to an unstable mRNA transcript that, if translated, would result in a truncated protein lacking the carboxy terminus. Here, we report Cys759Phe, a novel missense mutation in this gene that changes an amino-acid residue within the fifth laminin-epidermal growth factor-like domain of the USH2A gene and that is associated with recessive RP without hearing loss. This single mutation was found in 4.5% of 224 patients with recessive RP, suggesting that USH2A could cause more cases of nonsyndromic recessive RP than does any other gene identified to date.
Alleles Amino Acid Sequence Base Sequence *Deafness Epidermal Growth Factor/chemistry Extracellular Matrix Proteins/chemistry/*genetics Female Genes, Recessive/*genetics Humans Laminin/chemistry Male Molecular Sequence Data Mutation, Missense/*genetics Pedigree Protein Structure, Tertiary Retinitis Pigmentosa/*genetics Syndrome
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