Founding mutations explains hotspots of polycystic kidney disease in Southern Spain.
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2020-12-10
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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
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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.
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ADPKD, Southern Spain, common ancestor, disease-associated haplotype, founding mutation, hotspots