PAX 2 Mutation in an Indian Family with Renal Coloboma Syndrome
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 colobo...
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| Format: | Article |
| Language: | English |
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MDPI AG
2023-07-01
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| Series: | Kidney and Dialysis |
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| Online Access: | https://www.mdpi.com/2673-8236/3/3/23 |
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| author | Kumar Digvijay Grazia Maria Virzi Diego Pomarè Montin Lucas Gobetti da Luz Maryam Momeni Taramsari Ashwani Gupta Manish Malik Anurag Gupta Vinant Bhargava Meenakshi Verma Claudio Ronco Devinder Singh Rana Anil Kumar Bhalla |
| author_facet | Kumar Digvijay Grazia Maria Virzi Diego Pomarè Montin Lucas Gobetti da Luz Maryam Momeni Taramsari Ashwani Gupta Manish Malik Anurag Gupta Vinant Bhargava Meenakshi Verma Claudio Ronco Devinder Singh Rana Anil Kumar Bhalla |
| author_sort | Kumar Digvijay |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-10T22:34:37Z |
| format | Article |
| id | doaj.art-d0beaef8bd0549dda3dd2a7d69835efa |
| institution | Directory Open Access Journal |
| issn | 2673-8236 |
| language | English |
| last_indexed | 2024-03-10T22:34:37Z |
| publishDate | 2023-07-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Kidney and Dialysis |
| spelling | doaj.art-d0beaef8bd0549dda3dd2a7d69835efa2023-11-19T11:32:41ZengMDPI AGKidney and Dialysis2673-82362023-07-013325526410.3390/kidneydial3030023PAX 2 Mutation in an Indian Family with Renal Coloboma SyndromeKumar Digvijay0Grazia Maria Virzi1Diego Pomarè Montin2Lucas Gobetti da Luz3Maryam Momeni Taramsari4Ashwani Gupta5Manish Malik6Anurag Gupta7Vinant Bhargava8Meenakshi Verma9Claudio Ronco10Devinder Singh Rana11Anil Kumar Bhalla12Department of Nephrology, Sir Ganga Ram Hospital, New Delhi 110060, IndiaDepartment of Nephrology, Dialysis and Transplantation, San Bortolo Hospital, 36100 Vicenza, ItalyIRRIV-International Renal Research Institute, 36100 Vicenza, ItalyDepartment of Nephrology, Dialysis and Transplantation, San Bortolo Hospital, 36100 Vicenza, ItalyDepartment of Medicine, Guilan University of Medical Sciences, Rasht 4314637758, IranDepartment of Nephrology, Sir Ganga Ram Hospital, New Delhi 110060, IndiaDepartment of Nephrology, Sir Ganga Ram Hospital, New Delhi 110060, IndiaDepartment of Nephrology, Sir Ganga Ram Hospital, New Delhi 110060, IndiaDepartment of Nephrology, Sir Ganga Ram Hospital, New Delhi 110060, IndiaFunctional Genomics, CSIR-Institute of Genomics and Integrative Biology, New Delhi 110025, IndiaDepartment of Nephrology, Dialysis and Transplantation, San Bortolo Hospital, 36100 Vicenza, ItalyDepartment of Nephrology, Sir Ganga Ram Hospital, New Delhi 110060, IndiaDepartment of Nephrology, Sir Ganga Ram Hospital, New Delhi 110060, IndiaThe 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.https://www.mdpi.com/2673-8236/3/3/23renal coloboma syndrome (RCS)optic nerve colobomaPAX2mutationend-stage renal disease (ESRD) |
| spellingShingle | Kumar Digvijay Grazia Maria Virzi Diego Pomarè Montin Lucas Gobetti da Luz Maryam Momeni Taramsari Ashwani Gupta Manish Malik Anurag Gupta Vinant Bhargava Meenakshi Verma Claudio Ronco Devinder Singh Rana Anil Kumar Bhalla PAX 2 Mutation in an Indian Family with Renal Coloboma Syndrome Kidney and Dialysis renal coloboma syndrome (RCS) optic nerve coloboma PAX2 mutation end-stage renal disease (ESRD) |
| title | PAX 2 Mutation in an Indian Family with Renal Coloboma Syndrome |
| title_full | PAX 2 Mutation in an Indian Family with Renal Coloboma Syndrome |
| title_fullStr | PAX 2 Mutation in an Indian Family with Renal Coloboma Syndrome |
| title_full_unstemmed | PAX 2 Mutation in an Indian Family with Renal Coloboma Syndrome |
| title_short | PAX 2 Mutation in an Indian Family with Renal Coloboma Syndrome |
| title_sort | pax 2 mutation in an indian family with renal coloboma syndrome |
| topic | renal coloboma syndrome (RCS) optic nerve coloboma PAX2 mutation end-stage renal disease (ESRD) |
| url | https://www.mdpi.com/2673-8236/3/3/23 |
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