Article
Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure.
American journal of human genetics - 1 Aug 2009
Zivná Martina, Hůlková Helena, Matignon Marie, Hodanová Katerina, Vylet'al Petr, Kalbácová Marie, Baresová Veronika, Sikora Jakub, Blazková Hana, Zivný Jan, Ivánek Robert, Stránecký Viktor, Sovová Jana, Claes Kathleen, Lerut Evelyne, Fryns Jean-Pierre, Hart P Suzanne, Hart Thomas C, Adams Jeremy N, Pawtowski Audrey, Clemessy Maud, Gasc Jean-Marie, Gübler Marie-Claire, Antignac Corinne, Elleder Milan, Kapp Katja, Grimbert Philippe, Bleyer Anthony J, Kmoch Stanislav
Abstract excerpt
Through linkage analysis and candidate gene sequencing, we identified three unrelated families with the autosomal-dominant inheritance of early onset anemia, hypouricosuric hyperuricemia, progressive kidney failure, and mutations resulting either in the deletion (p.Leu16del) or the amino acid exchange (p.Leu16Arg) of a single leucine residue in the signal sequence of renin. Both mutations decrease signal sequence...
Topics
- Adolescent
- Adult
- Age of Onset
- Anemia
- Cell Line
- Child
- Child, Preschool
- Computer Simulation