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

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 b...

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Autores principales: Rasmussen, Maria, Nielsen, Marlene Louise, Manak, J Robert, Mogensen, Helle, Lildballe, Dorte L
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Exceptional Cases
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7886549/
https://www.ncbi.nlm.nih.gov/pubmed/33623695
http://dx.doi.org/10.1093/ckj/sfaa013
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author Rasmussen, Maria
Nielsen, Marlene Louise
Manak, J Robert
Mogensen, Helle
Lildballe, Dorte L
author_facet Rasmussen, Maria
Nielsen, Marlene Louise
Manak, J Robert
Mogensen, Helle
Lildballe, Dorte L
author_sort Rasmussen, Maria
collection PubMed
description 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.
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spelling pubmed-78865492021-02-22 PAX2 variant associated with bilateral kidney agenesis and broad intrafamilial disease variability Rasmussen, Maria Nielsen, Marlene Louise Manak, J Robert Mogensen, Helle Lildballe, Dorte L Clin Kidney J Exceptional Cases 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. Oxford University Press 2020-05-13 /pmc/articles/PMC7886549/ /pubmed/33623695 http://dx.doi.org/10.1093/ckj/sfaa013 Text en © The Author(s) 2020. Published by Oxford University Press on behalf of ERA-EDTA. http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Exceptional Cases
Rasmussen, Maria
Nielsen, Marlene Louise
Manak, J Robert
Mogensen, Helle
Lildballe, Dorte L
PAX2 variant associated with bilateral kidney agenesis and broad intrafamilial disease variability
title PAX2 variant associated with bilateral kidney agenesis and broad intrafamilial disease variability
title_full PAX2 variant associated with bilateral kidney agenesis and broad intrafamilial disease variability
title_fullStr PAX2 variant associated with bilateral kidney agenesis and broad intrafamilial disease variability
title_full_unstemmed PAX2 variant associated with bilateral kidney agenesis and broad intrafamilial disease variability
title_short PAX2 variant associated with bilateral kidney agenesis and broad intrafamilial disease variability
title_sort pax2 variant associated with bilateral kidney agenesis and broad intrafamilial disease variability
topic Exceptional Cases
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7886549/
https://www.ncbi.nlm.nih.gov/pubmed/33623695
http://dx.doi.org/10.1093/ckj/sfaa013
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