Title of article
A New PKD-1 Mutation Discovered in a Black African Woman With Autosomal Polycystic Kidney Disease
Author/Authors
Seck, Sidy Mohamed Department - Faculty of Health Sciences - University Gaston Berger - Saint-Louis, Senegal , Guèye, Serigne Department - University Hospital Aristide Le Dantec - Dakar, Senegal , Diouf, Boucar Department - University Hospital Aristide Le Dantec - Dakar, Senegal
Pages
4
From page
769
To page
772
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.
Keywords
Polycystic Kidney , Autosomal Dominant , PKD-1 , Mutation , African Continental Ancestry Group
Journal title
Astroparticle Physics
Serial Year
2013
Record number
2433741
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