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

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          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.

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          Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.

          K. Johnson, Gil Binenbaum, Abhay N Vats … (2012)
          Renal coloboma syndrome, also known as papillorenal syndrome is an autosomal-dominant disorder characterized by ocular and renal malformations. Mutations in the paired-box gene, PAX2, have been identified in approximately half of individuals with classic findings of renal hypoplasia/dysplasia and abnormalities of the optic nerve. Prior to 2011, there was no actively maintained locus-specific database (LSDB) cataloguing the extent of genetic variation in the PAX2 gene and phenotypic variation in individuals with renal coloboma syndrome. Review of published cases and the collective diagnostic experience of three laboratories in the United States, France, and New Zealand identified 55 unique mutations in 173 individuals from 86 families. The three clinical laboratories participating in this collaboration contributed 28 novel variations in 68 individuals in 33 families, which represent a 50% increase in the number of variations, patients, and families published in the medical literature. An LSDB was created using the Leiden Open Variation Database platform: www.lovd.nl/PAX2. The most common findings reported in this series were abnormal renal structure or function (92% of individuals), ophthalmological abnormalities (77% of individuals), and hearing loss (7% of individuals). Additional clinical findings and genetic counseling implications are discussed. © 2011 Wiley Periodicals, Inc.
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            Mutations in PAX2 associate with adult-onset FSGS.

            Moumita Barua, Emilia Stellacci, Lorenzo Stella … (2014)
            FSGS is characterized by the presence of partial sclerosis of some but not all glomeruli. Studies of familial FSGS have been instrumental in identifying podocytes as critical elements in maintaining glomerular function, but underlying mutations have not been identified for all forms of this genetically heterogeneous condition. Here, exome sequencing in members of an index family with dominant FSGS revealed a nonconservative, disease-segregating variant in the PAX2 transcription factor gene. Sequencing in probands of a familial FSGS cohort revealed seven rare and private heterozygous single nucleotide substitutions (4% of individuals). Further sequencing revealed seven private missense variants (8%) in a cohort of individuals with congenital abnormalities of the kidney and urinary tract. As predicted by in silico structural modeling analyses, in vitro functional studies documented that several of the FSGS-associated PAX2 mutations perturb protein function by affecting proper binding to DNA and transactivation activity or by altering the interaction of PAX2 with repressor proteins, resulting in enhanced repressor activity. Thus, mutations in PAX2 may contribute to adult-onset FSGS in the absence of overt extrarenal manifestations. These results expand the phenotypic spectrum associated with PAX2 mutations, which have been shown to lead to congenital abnormalities of the kidney and urinary tract as part of papillorenal syndrome. Moreover, these results indicate PAX2 mutations can cause disease through haploinsufficiency and dominant negative effects, which could have implications for tailoring individualized drug therapy in the future. Copyright © 2014 by the American Society of Nephrology.
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              Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes.

              Leire Madariaga, Vincent Morinière, Cécile Jeanpierre … (2013)
              Congenital anomalies of the kidney and urinary tract (CAKUT) are a frequent cause of renal failure in children, and their detection in utero is now common with fetal screening ultrasonography. The clinical course of CAKUT detected before birth is very heterogeneous and depends on the level of nephron reduction. The most severe forms cause life-threatening renal failure, leading to perinatal death or the need for very early renal replacement therapy.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Clin Kidney J
                Journal ID (iso-abbrev): Clin Kidney J
                Journal ID (publisher-id): ckj
                Title: Clinical Kidney Journal
                Publisher: Oxford University Press
                ISSN (Print): 2048-8505
                ISSN (Electronic): 2048-8513
                Publication date Collection: February 2021
                Publication date (Electronic): 13 May 2020
                Publication date PMC-release: 13 May 2020
                Volume: 14
                Issue: 2
                Pages: 704-706
                Affiliations
                [1 ] Department of Clinical Genetics, Vejle Hospital , Vejle, Denmark
                [2 ] Department of Clinical Genetics, Aarhus University , Aarhus N, Denmark
                [3 ] Department of Paediatrics, Carver College of Medicine, University of Iowa , Iowa City, IA, USA
                [4 ] Department of Biology, University of Iowa , Iowa City, IA, USA
                [5 ] Department of Gynecology and Obstetrics, Kolding Hospital , Kolding, Denmark
                Author notes
                Correspondence to: Maria Rasmussen; E-mail: maria.rasmussen5@ 123456rsyd.dk
                Author information
                http://orcid.org/0000-0003-1635-819X
                Article
                Publisher ID: sfaa013
                DOI: 10.1093/ckj/sfaa013
                PMC ID: 7886549
                SO-VID: 0d534875-ec38-40f1-8bfd-7e440183e60f
                Copyright © © The Author(s) 2020. Published by Oxford University Press on behalf of ERA-EDTA.
                License:

                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

                History
                Date received : 11 September 2019
                Date accepted : 26 December 2019
                Page count
                Pages: 3
                Categories
                Subject: Exceptional Cases
                Subject: AcademicSubjects/MED00340

                ScienceOpen disciplines: Nephrology
                Keywords: intrafamilial disease variability,kidney agenesis,kidney hypoplasia,pax2,renal coloboma syndrome
                Data availability:
                ScienceOpen disciplines: Nephrology
                Keywords: intrafamilial disease variability, kidney agenesis, kidney hypoplasia, pax2, renal coloboma syndrome

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