학술논문
Bilineal inheritance of type 1 autosomal dominant polycystic kidney disease (ADPKD) and recurrent fetal loss.
Document Type
Article
Author
Source
Subject
*POLYCYSTIC kidney disease
*HETEROZYGOSITY
*GENETIC mutation
*FETAL abnormalities
*FETAL death
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Language
ISSN
1753-0784
Abstract
We report for the first time a family with type 1 ADPKD in which the marriage between affected non-consanguinous individuals resulted in two live-born heterozygous offspring and two fetuses lost in mid-pregnancy. Given a 25% chance for mutant compound heterozygosity in the offspring of this family, our findings suggest that compound heterozygosity of PKD1 mutations in humans may be embryonically lethal. [ABSTRACT FROM PUBLISHER]