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Founding mutations explains hotspots of polycystic kidney disease in Southern Spain.

ABSTRACT: 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.

SUBMITTER: Garcia Rabaneda C

PROVIDER: S-EPMC8243269 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature

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Founding mutations explains hotspots of polycystic kidney disease in Southern Spain.

García Rabaneda Carmen C Perea Francisco F Bellido Díaz María Luz ML Morales García Ana I AI Martínez Atienza Margarita M Sousa Silva Lisbeth L González Miguel Ángel García MÁG Ruiz-Cabello Francisco F Esteban de la Rosa Rafael J RJ

Clinical kidney journal 20201210 7

Our group identified two pathogenic variants on the <i>PKD1</i> 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 findin ...[more]

PMID: 34221391

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