vWDI is inherited in an autosomal dominant manner with incomplete penetrance, in the Kromfohrländer breed
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چکیده
منابع مشابه
A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance.
C ongenital or paediatric cataract is a phenotypically and genetically heterogeneous disorder consisting of lens opacities in early life. Thirteen genes have been described for autosomal dominant congenital cataract (ADCC). These include genes for seven members of the crystallin family, 2 which are responsible for the refractive index and transparency of the lens, two connexin genes 4 and major...
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Accurate estimates of the penetrance rate of autosomal dominant conditions are important, among other issues, for optimizing recurrence risks in genetic counseling. The present work on penetrance rate estimation from pedigree data considers the following situations: 1) estimation of the penetrance rate K (brief review of the method); 2) construction of exact credible intervals for K estimates; ...
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IN CONTRAST to the hereditary disorders of red cells and white cells, inherited disorders of the platelets appear to be rare. Among the few reports of hereditary thrombocytopenia,1'4 some lack essential history or supporting laboratory data. Those which present more convincing evidence display a remarkable variety cf clinical features and genetic patterns. Only the so-called Aldrich syndrome7 e...
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A method is presented for estimating the probability of an affected child being born to a clinically unaffected subject who is at risk for having inherited a rare gene for an autosomal dominant disorder of unknown penetrance. The maximal risk is 8.6% for children of persons at 50% risk for having inherited the mutant gene regardless of the true penetrance of the disorder in question. Applicatio...
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We performed histopathologic and immunofluorescence studies of autopsy eyes from a 73-year-old woman with autosomal dominant retinitis pigmentosa from a family with reduced penetrance. Light microscopic examination showed extensive photoreceptor loss in most regions. In the temporal midperiphery of the retina, there were patches of remaining photoreceptors, some arranged in rosettes. Electron m...
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ژورنال
عنوان ژورنال: Canine Genetics and Epidemiology
سال: 2019
ISSN: 2052-6687
DOI: 10.1186/s40575-019-0073-4