García Rabaneda, CarmenPerea, FranciscoBellido Díaz, María LuzMorales García, Ana IMartínez Atienza, MargaritaSousa Silva, LisbethGonzález, Miguel Ángel GarcíaRuiz-Cabello, FranciscoEsteban de la Rosa, Rafael J2025-01-072025-01-072020-12-102048-8505https://hdl.handle.net/10668/26228Our 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.enAttribution-NonCommercial 4.0 Internationalhttp://creativecommons.org/licenses/by-nc/4.0/ADPKDSouthern Spaincommon ancestordisease-associated haplotypefounding mutationhotspotsresearch article34221391open access10.1093/ckj/sfaa261PMC8243269https://academic.oup.com/ckj/article-pdf/14/7/1845/38822069/sfaa261.pdfhttps://pmc.ncbi.nlm.nih.gov/articles/PMC8243269/pdf