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      Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q.

      Human genetics
      Adult, Arginine, Base Sequence, Collagen, genetics, Dinucleotide Repeats, Europe, ethnology, Family, Female, Genetic Markers, Glutamine, Humans, Jews, Male, Nephritis, Nephritis, Hereditary, Pedigree, Point Mutation, Trinucleotide Repeats, Utah

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          Abstract

          Mutations in the basement membrane collagen gene COL4A5 cause the progressive renal glomerular nephropathy and typical hearing loss that occur in X-linked Alport syndrome. Nearly all cases involve distinct mutations, as expected for an X-linked disease that significantly reduces the fitness of affected males. A few exceptional COL4A5 mutations appear to be associated with a reduced disease severity and may account for a significant proportion of late-onset Alport syndrome in populations where a founder effect has occurred. The novel mutation reported here, COL4A5 arg1677gln, has been detected in three independently ascertained Ashkenazi-American families, causes a relatively mild form of nephritis with typical onset in the fourth or fifth decade, and may be involved in the etiology of a large proportion of adult-onset hereditary nephritis in Ashkenazi Jews.

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