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Linkage study of a large family with autosomal dominant polycystic kidney disease with reduced expression

โœ Scribed by Lucien Bachner; Marie Claude Vinet; Roger Lacave; Marie Claude Babron; Eric Rondeau; Jean Daniel Sraer; Dominique Chevet; Jean-Claude Kaplan

Publisher
Springer
Year
1990
Tongue
English
Weight
692 KB
Volume
85
Category
Article
ISSN
0340-6717

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โœฆ Synopsis

We describe a large three generation family with autosomal dominant polycystic kidney disease (PKD). Ultrasonographic screening of 60 family members revealed 20 individuals, whose age ranged from ten to eighty years, with one or several cysts in only one kidney and 7 individuals with cysts in both kidneys. Transmission of unilateral cysts seems to be autosomal dominant, although there are some generation gaps. Linkage studies with several markers of the PKD1 locus on the short arm of chromosome 16 showed no linkage with the disease. Lod scores for linkage between the disease and the most informative marker 3'HVR were computed using different penetrance models and several hypotheses concerning the clinical status of individuals with unilateral renal cysts. Results varied from Z = 1.31 to Z = -21.47 (theta = 0). Smith's test of heterogeneity gave a conditional probability of non-linkage between 0.9 and 1.0. We conclude that this family presents a form of autosomal dominant PKD with reduced penetrance and no linkage to the PKD1 locus on the short arm of chromosome 16. Other hypotheses, such as the existence of two distinct hereditary diseases in this large family, or neomutation in one branch of the family associated with a high frequency of isolated renal cysts, are also considered.

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