Case report: A novel compound heterozygous variant in the TNXB gene causes single kidney agenesis and vesicoureteral reflux
Primary vesicoureteral reflux (VUR) is the prevailing congenital anomaly of the kidneys and urinary tract, posing a significant risk for pyelonephritis scarring and chronic renal insufficiency in pediatric patients. Nevertheless, the precise genetic etiology of VUR remains enigmatic. In this current...
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Frontiers Media S.A.
2024-02-01
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Online Access: | https://www.frontiersin.org/articles/10.3389/fendo.2024.1322395/full |
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author | Lei Liang Haotian Wu Haixia Meng Lin Fu Jianrong Zhao |
author_facet | Lei Liang Haotian Wu Haixia Meng Lin Fu Jianrong Zhao |
author_sort | Lei Liang |
collection | DOAJ |
description | Primary vesicoureteral reflux (VUR) is the prevailing congenital anomaly of the kidneys and urinary tract, posing a significant risk for pyelonephritis scarring and chronic renal insufficiency in pediatric patients. Nevertheless, the precise genetic etiology of VUR remains enigmatic. In this current investigation, we conducted whole-exome sequencing on a child exhibiting single kidney, devoid of any familial VUR background, along with both biological parents. Two missense variants (NM_019105.8: exon11: c.4111G>A and NM_019105.8: exon2: c.31A>T) in the TNXB gene were identified through whole-exome sequencing of the child. These variants were found to be inherited from the child’s parents, with each parent carrying one of the variants. Molecular dynamics simulations were conducted to assess the impact of these variants on the tenascin XB proteins encoded by them, revealing varying degrees of impairment. Based on our findings, it is suggested that the TNXB compound heterozygous variant, consisting of c.4111G>A and c.31A>T, may be the underlying cause of right renal agenesis and left hydronephrosis in afflicted child. This discovery broadens the genetic range of the TNXB gene and establishes a genetic foundation for disease-specific preimplantation genetic diagnosis (PGD) in prospective pregnancies involving the parents of this afflicted child. |
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language | English |
last_indexed | 2024-03-08T08:25:28Z |
publishDate | 2024-02-01 |
publisher | Frontiers Media S.A. |
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series | Frontiers in Endocrinology |
spelling | doaj.art-66896d38626b4ae29d4ca3f1628015142024-02-02T04:50:22ZengFrontiers Media S.A.Frontiers in Endocrinology1664-23922024-02-011510.3389/fendo.2024.13223951322395Case report: A novel compound heterozygous variant in the TNXB gene causes single kidney agenesis and vesicoureteral refluxLei Liang0Haotian Wu1Haixia Meng2Lin Fu3Jianrong Zhao4Center for Prenatal Diagnosis and Medical Genetics, Affiliated Hospital of Inner Mongolia Medical University, Hohhot, ChinaSchool of Public Health, Inner Mongolia Medical University, Hohhot, ChinaCenter for Prenatal Diagnosis and Medical Genetics, Affiliated Hospital of Inner Mongolia Medical University, Hohhot, ChinaDepartment of Ultrasound, Affiliated Hospital of Inner Mongolia Medical University, Hohhot, ChinaDepartment of Nephrology, Affiliated Hospital of Inner Mongolia Medical University, Hohhot, ChinaPrimary vesicoureteral reflux (VUR) is the prevailing congenital anomaly of the kidneys and urinary tract, posing a significant risk for pyelonephritis scarring and chronic renal insufficiency in pediatric patients. Nevertheless, the precise genetic etiology of VUR remains enigmatic. In this current investigation, we conducted whole-exome sequencing on a child exhibiting single kidney, devoid of any familial VUR background, along with both biological parents. Two missense variants (NM_019105.8: exon11: c.4111G>A and NM_019105.8: exon2: c.31A>T) in the TNXB gene were identified through whole-exome sequencing of the child. These variants were found to be inherited from the child’s parents, with each parent carrying one of the variants. Molecular dynamics simulations were conducted to assess the impact of these variants on the tenascin XB proteins encoded by them, revealing varying degrees of impairment. Based on our findings, it is suggested that the TNXB compound heterozygous variant, consisting of c.4111G>A and c.31A>T, may be the underlying cause of right renal agenesis and left hydronephrosis in afflicted child. This discovery broadens the genetic range of the TNXB gene and establishes a genetic foundation for disease-specific preimplantation genetic diagnosis (PGD) in prospective pregnancies involving the parents of this afflicted child.https://www.frontiersin.org/articles/10.3389/fendo.2024.1322395/fullvesicoureteral refluxTNXBcompound heterozygous variantsingle kidneymolecular dynamics |
spellingShingle | Lei Liang Haotian Wu Haixia Meng Lin Fu Jianrong Zhao Case report: A novel compound heterozygous variant in the TNXB gene causes single kidney agenesis and vesicoureteral reflux Frontiers in Endocrinology vesicoureteral reflux TNXB compound heterozygous variant single kidney molecular dynamics |
title | Case report: A novel compound heterozygous variant in the TNXB gene causes single kidney agenesis and vesicoureteral reflux |
title_full | Case report: A novel compound heterozygous variant in the TNXB gene causes single kidney agenesis and vesicoureteral reflux |
title_fullStr | Case report: A novel compound heterozygous variant in the TNXB gene causes single kidney agenesis and vesicoureteral reflux |
title_full_unstemmed | Case report: A novel compound heterozygous variant in the TNXB gene causes single kidney agenesis and vesicoureteral reflux |
title_short | Case report: A novel compound heterozygous variant in the TNXB gene causes single kidney agenesis and vesicoureteral reflux |
title_sort | case report a novel compound heterozygous variant in the tnxb gene causes single kidney agenesis and vesicoureteral reflux |
topic | vesicoureteral reflux TNXB compound heterozygous variant single kidney molecular dynamics |
url | https://www.frontiersin.org/articles/10.3389/fendo.2024.1322395/full |
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