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- Title
PAX2 variant associated with bilateral kidney agenesis and broad intrafamilial disease variability.
- Authors
Rasmussen, Maria; Nielsen, Marlene Louise; Manak, J Robert; Mogensen, Helle; Lildballe, Dorte L
- 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.
- Subjects
HYDRONEPHROSIS; KIDNEYS; OPTIC nerve
- Publication
Clinical Kidney Journal, 2021, Vol 14, Issue 2, p704
- ISSN
2048-8505
- Publication type
Article
- DOI
10.1093/ckj/sfaa013