Bilineal inheritance of type 1 autosomal dominant polycystic kidney disease (ADPKD) and recurrent fetal loss

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,...

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Detalles Bibliográficos
Autores principales: Peces, Ramón, Peces, Carlos, Coto, Eliecer, Selgas, Rafael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2008
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4421290/
https://www.ncbi.nlm.nih.gov/pubmed/25983914
http://dx.doi.org/10.1093/ndtplus/sfn103
Descripción
Sumario: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.

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