Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q |
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| Authors: | D. F. Barker Joyce C. Denison Curtis L. Atkin Martin C. Gregory |
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| Affiliation: | (1) Department of Physiology, Room 156, 410 Chipeta Way, University of Utah Research Park, Salt Lake City, UT 84108, USA Tel.: +1-801-585-6101; Fax: +1-801-585-3232; e-mail: david.f.barker@m.cc.utah.edu, US;(2) Department of Biochemistry, University of Utah Health Sciences Center, Salt Lake City, Utah 84132, USA, US;(3) Department of Medicine, University of Utah Health Sciences Center, Salt Lake City, Utah 84132, USA, US |
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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. Received: 14 October 1996 / Revised: 11 December 1996 |
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