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...

Descripción completa

Detalles Bibliográficos
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
Descripción
Sumario: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.

Ejemplares similares