Article
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.
Kidney international - 1 Jan 2018
Daga Ankana, Majmundar Amar J, Braun Daniela A, Gee Heon Yung, Lawson Jennifer A, Shril Shirlee, Jobst-Schwan Tilman, Vivante Asaf, Schapiro David, Tan Weizhen, Warejko Jillian K, Widmeier Eugen, Nelson Caleb P, Fathy Hanan M, Gucev Zoran, Soliman Neveen A, Hashmi Seema, Halbritter Jan, Halty Margarita, Kari Jameela A, El-Desoky Sherif, Ferguson Michael A, Somers Michael J G, Traum Avram Z, Stein Deborah R, Daouk Ghaleb H, Rodig Nancy M, Katz Avi, Hanna Christian, Schwaderer Andrew L, Sayer John A, Wassner Ari J, Mane Shrikant, Lifton Richard P, Milosevic Danko, Tasic Velibor, Baum Michelle A, Hildebrandt Friedhelm
Abstract excerpt
The incidence of nephrolithiasis continues to rise. Previously, we showed that a monogenic cause could be detected in 11.4% of individuals with adult-onset nephrolithiasis or nephrocalcinosis and in 16.7-20.8% of individuals with onset before 18 years of age, using gene panel sequencing of 30 genes known to cause nephrolithiasis/nephrocalcinosis. To overcome the limitations of panel sequencing, we utilized whole...
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