Work

PAX2 variant associated with bilateral kidney agenesis and broad intrafamilial disease variability

Year: 2020

Type: article

Abstract: Pathogenic variants in PAX2 have previously been associated with renal coloboma syndrome. Here we present a novel variant c.68T>C associated with bilateral kidney agenesis, minimal change nephropathy, ureteropelvic junction obstruction, duplex kidney with hydronephrosis of upper pole system and bilateral kidney hypoplasia within the same family. Additionally, two family members were found to have optic nerve abnormalities further supporting the impact of the PAX2 variant. This is the first report of a PAX2 variant associated with bilateral kidney agenesis.

Source: Clinical Kidney Journal

DOI: 10.1093/ckj/sfaa013

Authors: Maria Rasmussen, Marlene Louise Nielsen, J Robert Manak, Helle Mogensen, Dorte L Lildballe

Institutions: Vejle Sygehus, Aarhus University, University of Iowa, Kolding Hospital

Language: English

Topic: Renal and related cancers

Subfield: Oncology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,335