PAX 2 Mutation in an Indian Family with Renal Coloboma Syndrome-Reference-Cited by-同舟云学术

PAX 2 Mutation in an Indian Family with Renal Coloboma Syndrome

Published:2023-07-04 Issue:3 Volume:3 Page:255-264
ISSN:2673-8236
Container-title:Kidney and Dialysis
language:en
Short-container-title:Kidney and Dialysis

Author:

Digvijay Kumar¹²³⁴^ORCID,Virzi Grazia Maria²³^ORCID,Pomarè Montin Diego³,da Luz Lucas Gobetti²³⁵^ORCID,Taramsari Maryam Momeni⁶,Gupta Ashwani¹,Malik Manish¹,Gupta Anurag¹,Bhargava Vinant¹,Verma Meenakshi⁷⁸,Ronco Claudio²³,Rana Devinder Singh¹,Bhalla Anil Kumar¹

Affiliation:

1. Department of Nephrology, Sir Ganga Ram Hospital, New Delhi 110060, India

2. Department of Nephrology, Dialysis and Transplantation, San Bortolo Hospital, 36100 Vicenza, Italy

3. IRRIV-International Renal Research Institute, 36100 Vicenza, Italy

4. Department of Medical Sciences, University di Torino, 10126 Torino, Italy

5. Department of Nephrology, Federal University of Sào Paulo Hospital, Sào Paulo 9003500, Brazil

6. Department of Medicine, Guilan University of Medical Sciences, Rasht 4314637758, Iran

7. Functional Genomics, CSIR-Institute of Genomics and Integrative Biology, New Delhi 110025, India

8. Department of Medical Oncology, All India Institute of Medical Sciences, New Delhi 110029, India

Abstract

The transcription factor encoded by the PAX2 gene plays a significant role in the development of the urogenital tract, eyes, ears, and central nervous system. Heterozygous mutations in the PAX2 gene cause renal coloboma syndrome, a rare autosomal dominant disorder characterized by optic nerve coloboma and renal anomalies. In this study, two siblings with chronic kidney disease (CKD) receiving regular dialysis therapy were investigated. DNA sequencing was performed on blood samples from both patients, which revealed four novel heterozygous variations in the PAX2 gene in both patients. Sequencing analysis showed a C to G transversion at position c.352 of the PAX2 gene in a heterozygous state.

Publisher

MDPI AG

Link

https://www.mdpi.com/2673-8236/3/3/23/pdf

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