Founding mutations explains hotspots of polycystic kidney disease in Southern Spain

Our group identified two pathogenic variants on the PKD1 gene, c.10527_10528delGA and c.7292T>A, from unrelated families. They came from two small counties in Granada, with 61 and 26 autosomal dominant polycystic kidney disease (ADPKD) individuals affected. To determine a common ancestor, healthy...

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Autores principales: García Rabaneda, Carmen, Perea, Francisco, Bellido Díaz, María Luz, Morales García, Ana I, Martínez Atienza, Margarita, Sousa Silva, Lisbeth, González, Miguel Ángel García, Ruiz-Cabello, Francisco, Esteban de la Rosa, Rafael J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Exceptional Cases
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8243269/
https://www.ncbi.nlm.nih.gov/pubmed/34221391
http://dx.doi.org/10.1093/ckj/sfaa261
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author García Rabaneda, Carmen
Perea, Francisco
Bellido Díaz, María Luz
Morales García, Ana I
Martínez Atienza, Margarita
Sousa Silva, Lisbeth
González, Miguel Ángel García
Ruiz-Cabello, Francisco
Esteban de la Rosa, Rafael J
author_facet García Rabaneda, Carmen
Perea, Francisco
Bellido Díaz, María Luz
Morales García, Ana I
Martínez Atienza, Margarita
Sousa Silva, Lisbeth
González, Miguel Ángel García
Ruiz-Cabello, Francisco
Esteban de la Rosa, Rafael J
author_sort García Rabaneda, Carmen
collection PubMed
description Our group identified two pathogenic variants on the PKD1 gene, c.10527_10528delGA and c.7292T>A, from unrelated families. They came from two small counties in Granada, with 61 and 26 autosomal dominant polycystic kidney disease (ADPKD) individuals affected. To determine a common ancestor, healthy and ADPKD individuals from these families were genotyped by analysing four microsatellites located on chromosome 16. Our study identified a common haplotype in all ADPKD individuals. These findings underpin our hypothesis of the founder effect and explain why there is a high frequency of ADPKD in small regions. Determining hotspots of ADPKD will help to better plan healthcare in the future.
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spelling pubmed-82432692021-07-01 Founding mutations explains hotspots of polycystic kidney disease in Southern Spain García Rabaneda, Carmen Perea, Francisco Bellido Díaz, María Luz Morales García, Ana I Martínez Atienza, Margarita Sousa Silva, Lisbeth González, Miguel Ángel García Ruiz-Cabello, Francisco Esteban de la Rosa, Rafael J Clin Kidney J Exceptional Cases Our group identified two pathogenic variants on the PKD1 gene, c.10527_10528delGA and c.7292T>A, from unrelated families. They came from two small counties in Granada, with 61 and 26 autosomal dominant polycystic kidney disease (ADPKD) individuals affected. To determine a common ancestor, healthy and ADPKD individuals from these families were genotyped by analysing four microsatellites located on chromosome 16. Our study identified a common haplotype in all ADPKD individuals. These findings underpin our hypothesis of the founder effect and explain why there is a high frequency of ADPKD in small regions. Determining hotspots of ADPKD will help to better plan healthcare in the future. Oxford University Press 2020-12-10 /pmc/articles/PMC8243269/ /pubmed/34221391 http://dx.doi.org/10.1093/ckj/sfaa261 Text en © The Author(s) 2020. Published by Oxford University Press on behalf of ERA-EDTA. https://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/ (https://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 Exceptional Cases
García Rabaneda, Carmen
Perea, Francisco
Bellido Díaz, María Luz
Morales García, Ana I
Martínez Atienza, Margarita
Sousa Silva, Lisbeth
González, Miguel Ángel García
Ruiz-Cabello, Francisco
Esteban de la Rosa, Rafael J
Founding mutations explains hotspots of polycystic kidney disease in Southern Spain
title Founding mutations explains hotspots of polycystic kidney disease in Southern Spain
title_full Founding mutations explains hotspots of polycystic kidney disease in Southern Spain
title_fullStr Founding mutations explains hotspots of polycystic kidney disease in Southern Spain
title_full_unstemmed Founding mutations explains hotspots of polycystic kidney disease in Southern Spain
title_short Founding mutations explains hotspots of polycystic kidney disease in Southern Spain
title_sort founding mutations explains hotspots of polycystic kidney disease in southern spain
topic Exceptional Cases
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8243269/
https://www.ncbi.nlm.nih.gov/pubmed/34221391
http://dx.doi.org/10.1093/ckj/sfaa261
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