Apparently changing patterns of inheritance in Alport's hereditary nephritis: Genetic heterogeneity versus altered diagnostic criteria |
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Authors: | Sarah Helen Evans Robert P. Erickson Robert Kelsch John C. Peirce |
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Affiliation: | Departments of Human Genetics, Michigan, USA;Departments of Pediatrics, University of Michigan School of Medicine, Ann Arbor, Michigan, USA;Nephrology Department, St. Mary's Hospital, Grand Rapids, Michigan, USA |
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Abstract: | With the use of more stringent diagnostic criteria, it has recently been shown that some large pedigrees of Alport's and non-Alport's hereditary nephritis fit sex-linked dominant inheritance (O'Neill et al. 1978). We have used similar diagnostic criteria and have studied a number of Michigan pedigrees in order to see if this hypothesis would be confirmed. We found one small pedigree which definitely shows male-to-male transmission, while one large pedigree is tentatively compatible with sex-linked dominant inheritance. Many of the other pedigrees suggested male-to-male transmission. This Michigan experience is compared to other published reports and found to be consistent, although a trend of fewer reports of male-to-male transmission is seen. We conclude that genetic heterogeneity of Alport's hereditary nephritis is likely. |
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Keywords: | Alport's syndrome dominant inheritance genetic heterogeneity nephritis segregation ratios X-linkage |
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