A New PKD-1 Mutation Discovered in a Black African Woman With Autosomal Polycystic Kidney Disease

Abstract

Autosomal polycystic kidney disease (ADPKD) is a genetic disorder with two causal PKD-1 and PKD-2. Genetic studies have demonstrated an important allelic variability between patients but few data are known about genetic variants in African populations. We report a new mutation found in a 41-year old women with mild chronic kidney disease secondary to ADPKD. Molecular genetic testing found a deletion of 2 nucleotides A and C at positions 7290 and 7291 followed by insertion of a 5-base pair (CTGCA) located in exon 18 of the PKD1 gene. This newly identified frame shifting was compared to the PKD gene database but no similar mutation was yet reported. Other screened family members did not present any mutation.