ArticleJournal of the American Society of Nephrology : JASN2013
TNXB mutations can cause vesicoureteral reflux.
Article in Journal of the American Society of Nephrology : JASN, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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42 citing papers in PubMed, 69 citations in OpenAlex.
- Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.Human genetics · 2015Trial
- Proteome-wide Mendelian randomization identifies APOM and TNXB as actionable mediators of steroid-sensitive nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2026Article
- Case Report: Prolonged survival in Schinzel-Giedion syndrome featuring megaureter andFrontiers in pediatrics · 2025Article
- Pathophysiology of Congenital Anomalies of the Kidney and Urinary Tract: A Comprehensive Review.Cells · 2024Review
- Vitamin D in Primary Sjogren's Syndrome (pSS) and the Identification of Novel Single-Nucleotide Polymorphisms Involved in the Development of pSS-Associated Diseases.Diagnostics (Basel, Switzerland) · 2024Review
- Case report: A novel compound heterozygous variant in theFrontiers in endocrinology · 2024Article
- Analysis of cancer-associated fibroblasts in cervical cancer by single-cell RNA sequencing.Aging · 2023Article
- The same heterozygousFrontiers in genetics · 2023Article
- Deciphering the mutation spectrum in south Indian children with congenital anomalies of the kidney and urinary tract.BMC nephrology · 2022Article
- Whole exome sequencing identifies KIF26B, LIFR and LAMC1 mutations in familial vesicoureteral reflux.PloS one · 2022Article
- 3D Mapping Reveals a Complex and Transient Interstitial Matrix During Murine Kidney Development.Journal of the American Society of Nephrology : JASN · 2021Article
- Identification of methylation changes associated with positive and negative growth deviance in Gambian infants using a targeted methyl sequencing approach of genomic DNA.FASEB bioAdvances · 2021Article
- Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux.Journal of the American Society of Nephrology : JASN · 2021Article
- Children with vesicoureteric reflux have joint hypermobility and occasional tenascin XB sequence variants.Canadian Urological Association journal = Journal de l'Association des urologues du Canada · 2020Article
- Tenascin-X-Discovery and Early Research.Frontiers in immunology · 2020Review
- The Roles of Tenascins in Cardiovascular, Inflammatory, and Heritable Connective Tissue Diseases.Frontiers in immunology · 2020Review
- Overactivity or blockade of transforming growth factor-β each generate a specific ureter malformation.The Journal of pathology · 2019Article
- DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Congenital Disorders of the Human Urinary Tract: Recent Insights From Genetic and Molecular Studies.Frontiers in pediatrics · 2019Review
- DNA copy number variations in children with vesicoureteral reflux and urinary tract infections.PloS one · 2019Article
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23 authors at 10 institutions in 2 countries.
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Abstract
Primary vesicoureteral reflux (VUR) is the most common congenital anomaly of the kidney and the urinary tract, and it is a major risk factor for pyelonephritic scarring and CKD in children. Although twin studies support the heritability of VUR, specific genetic causes remain elusive. We performed a sequential genome-wide linkage study and whole-exome sequencing in a family with hereditary VUR. We obtained a significant multipoint parametric logarithm of odds score of 3.3 on chromosome 6p, and whole-exome sequencing identified a deleterious heterozygous mutation (T3257I) in the gene encoding tenascin XB (TNXB in 6p21.3). This mutation segregated with disease in the affected family as well as with a pathogenic G1331R change in another family. Fibroblast cell lines carrying the T3257I mutation exhibited a reduction in both cell motility and phosphorylated focal adhesion kinase expression, suggesting a defect in the focal adhesions that link the cell cytoplasm to the extracellular matrix. Immunohistochemical studies revealed that the human uroepithelial lining of the ureterovesical junction expresses TNXB, suggesting that TNXB may be important for generating tensile forces that close the ureterovesical junction during voiding. Taken together, these results suggest that mutations in TNXB can cause hereditary VUR.
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