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
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author Peces, Ramón
Peces, Carlos
Coto, Eliecer
Selgas, Rafael
author_facet Peces, Ramón
Peces, Carlos
Coto, Eliecer
Selgas, Rafael
author_sort Peces, Ramón
collection PubMed
description 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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spelling pubmed-44212902015-05-15 Bilineal inheritance of type 1 autosomal dominant polycystic kidney disease (ADPKD) and recurrent fetal loss Peces, Ramón Peces, Carlos Coto, Eliecer Selgas, Rafael NDT Plus Case Report 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. Oxford University Press 2008-10 2008-07-11 /pmc/articles/PMC4421290/ /pubmed/25983914 http://dx.doi.org/10.1093/ndtplus/sfn103 Text en © The Author [2008]. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For Permissions, please e-mail: journals.permissions@oxfordjournals.org http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Case Report
Peces, Ramón
Peces, Carlos
Coto, Eliecer
Selgas, Rafael
Bilineal inheritance of type 1 autosomal dominant polycystic kidney disease (ADPKD) and recurrent fetal loss
title Bilineal inheritance of type 1 autosomal dominant polycystic kidney disease (ADPKD) and recurrent fetal loss
title_full Bilineal inheritance of type 1 autosomal dominant polycystic kidney disease (ADPKD) and recurrent fetal loss
title_fullStr Bilineal inheritance of type 1 autosomal dominant polycystic kidney disease (ADPKD) and recurrent fetal loss
title_full_unstemmed Bilineal inheritance of type 1 autosomal dominant polycystic kidney disease (ADPKD) and recurrent fetal loss
title_short Bilineal inheritance of type 1 autosomal dominant polycystic kidney disease (ADPKD) and recurrent fetal loss
title_sort bilineal inheritance of type 1 autosomal dominant polycystic kidney disease (adpkd) and recurrent fetal loss
topic Case Report
url 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
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