Experimental Nephrology and Genetics: Case Study of Genetic Interest

Giovanella S.a· Pasini A.b· Ligabue G.c· Testa F.d· Mori G.d· Tagliafico E.e· Magistroni R.c,d

Author affiliations

aPhD Program in Clinical and Experimental Medicine, University of Modena and Reggio Emilia, Modena, Italy
bNephrology and Dialysis Service, Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy
cSurgical Medical and Dental Department of Morphological Sciences, University of Modena and Reggio Emilia, Modena, Italy
dDivision of Nephrology, Dialysis and Kidney Transplantation, Azienda Ospedaliero-Universitaria di Modena, Modena, Italy
eDepartment of Medical and Surgical Sciences, Center for Genome Research, University of Modena and Reggio Emilia, Modena, Italy

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Article / Publication Details

First-Page Preview

Received: September 14, 2021
Accepted: April 19, 2022
Published online: July 05, 2022

Number of Print Pages: 7
Number of Figures: 2
Number of Tables: 3

ISSN: 1660-8151 (Print)
eISSN: 2235-3186 (Online)

For additional information: https://www.karger.com/NEF

Abstract

Renal coloboma syndrome (RCS) is a disease characterized by kidney and ocular anomalies (kidney hypodysplasia and coloboma). RCS is caused, in half of the cases, by mutations in the paired box 2 (PAX2) gene, a critical organogenesis transcriptional factor. We report the case of a newborn with kidney hypodysplasia in a negative parental context where mother and father were phenotypically unaffected at the initial evaluation. The maternal family presented an important history of kidney disease with undefined diagnosis. Molecular characterization identified a PAX2 variant, classified as likely pathogenic. This variant segregates with the disease, and it was also found in the newborn, explaining his severe symptoms. It is noteworthy that the mother shows the same PAX2 variant, with an apparently negative kidney phenotype, displaying the possibility of an extreme variable expressivity of the disease. This feature suggests extreme caution in segregation analysis and family counseling of PAX2 pedigrees.

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First-Page Preview

Received: September 14, 2021
Accepted: April 19, 2022
Published online: July 05, 2022

Number of Print Pages: 7
Number of Figures: 2
Number of Tables: 3

ISSN: 1660-8151 (Print)
eISSN: 2235-3186 (Online)

For additional information: https://www.karger.com/NEF

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