Mutations in HOGA1 do Not Confer a Dominant Phenotype Manifesting as Kidney Stone Disease.

Roi Bar¹, Efrat Ben-Shalom¹, Mordechai Duvdevani², Ruth Belostotsky¹, Martin R Pollak³, David B Mount⁴, Ruth Bar-Gal¹, Ehud Gnessin⁵, Shay Tzur⁶, Gary C Curhan⁴, Yaacov Frishberg¹

¹Division of Pediatric Nephrology, Shaare Zedek Medical Center, Jerusalem, Israel.

²Department of Urology, Hadassah Hebrew University Hospital, Jerusalem, Israel.

³Division of Nephrology, Beth Israel Deaconess Medical Center, Boston, Massachusetts.

⁴Division of Nephrology, Brigham and Women's Hospital, Boston, Massachusetts.

⁵Department of Urology, Shaare Zedek Medical Center, Jerusalem, Israel.

⁶Genomic Research Department, Emedgene Technologies, Tel Aviv, Israel.

PubMed DOI

Abstract

PURPOSE: The etiology of calcium-oxalate kidney stone formation remains elusive. Biallelic mutations in HOGA1 are responsible for primary hyperoxaluria type 3 and result in oxalate overproduction and kidney stone disease. Our previous study showed that carriers of HOGA1 mutations have elevated urinary levels of oxalate precursors. In this study we explored the possibility that mutations in HOGA1 c…

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