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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Received: 14 October 1996 / Revised: 11 December 1996
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Barker, D., Denison, J., Atkin, C. et al. Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q. Hum Genet 99, 681–684 (1997). https://doi.org/10.1007/s004390050429
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DOI: https://doi.org/10.1007/s004390050429