New mutation associated with autosomal dominant polycystic kidney disease with founder effect located in the alpujarra region of granada.

CONCLUSIONS: The variant c.7292T>A in PKD1 gene is responsible for the disease, and its distribution in the Alpujarra region of Granada suggests a founder effect. In ADPKD it is necessary to perform segregation studies that help us to reclassify genetic variants, in this case from indeterminate to pathogenic. PMID: 32505451 [PubMed - as supplied by publisher]
Source: Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia - Category: Urology & Nephrology Tags: Nefrologia Source Type: research