ArticleJournal of the American Society of Nephrology : JASN2014
Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.
Article in Journal of the American Society of Nephrology : JASN, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers.
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Who cites it
57 citing papers in PubMed, 110 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
- Genetic kidney diseases: Decoding molecular taxonomies to drive precision nephrology and therapeutic innovation.Genes & diseases · 2027Review
- Clinical and Molecular characteristics of kidney and urinary tract congenital anomalies in a cohort of Egyptian patients using whole-exome sequencing.Molecular biology reports · 2026Article
- A novel homozygous splicing variant in FREM1 expands the phenotypic spectrum of BNAR syndrome: functional validation and successful PGT-M.BMC medical genomics · 2026Article
- Genetic etiology of inherited kidney diseases in egyptian patients: next generation sequencing identifies six novel variants.Molecular and cellular pediatrics · 2025Article
- Genetic and Clinical Factors Influencing Congenital Anomalies of the Kidney and Urinary Tract in Children: Insights from Prenatal and Postnatal Assessments.Biomedicines · 2024Article
- Congenital glottic stenosis as a clinical manifestation ofBMJ case reports · 2024Article
- The genetic etiologies of bilateral renal agenesis.Prenatal diagnosis · 2024Review
- The genetics and pathogenesis of CAKUT.Nature reviews. Nephrology · 2023Review
- Definition, diagnosis and clinical management of non-obstructive kidney dysplasia: a consensus statement by the ERKNet Working Group on Kidney Malformations.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2022Article
- The genetic basis of congenital anomalies of the kidney and urinary tract.Pediatric nephrology (Berlin, Germany) · 2022Review
- Missense Variants inGenes · 2022Article
- Review of genetic testing in kidney disease patients: Diagnostic yield of single nucleotide variants and copy number variations evaluated across and within kidney phenotype groups.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract American Journal of Medical Genetics Part C.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- Deciphering the mutation spectrum in south Indian children with congenital anomalies of the kidney and urinary tract.BMC nephrology · 2022Article
- Whole Exome Sequencing in a Population With Severe Congenital Anomalies of Kidney and Urinary Tract.Frontiers in pediatrics · 2022Article
- A genome-wide scan to locate regions associated with familial vesicoureteral reflux.Experimental and therapeutic medicine · 2022Article
- Smad4 controls proliferation of interstitial cells in the neonatal kidney.Development (Cambridge, England) · 2022Article
- Molecular causes of congenital anomalies of the kidney and urinary tract (CAKUT).Molecular and cellular pediatrics · 2021Review
- Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches.Kidney international reports · 2021Article
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Authors and funding
12 authors at 7 institutions in 8 countries.
Funding
Abstract
Congenital anomalies of the kidney and urinary tract (CAKUT) account for approximately 40% of children with ESRD in the United States. Hitherto, mutations in 23 genes have been described as causing autosomal dominant isolated CAKUT in humans. However, >90% of cases of isolated CAKUT still remain without a molecular diagnosis. Here, we hypothesized that genes mutated in recessive mouse models with the specific CAKUT phenotype of unilateral renal agenesis may also be mutated in humans with isolated CAKUT. We applied next-generation sequencing technology for targeted exon sequencing of 12 recessive murine candidate genes in 574 individuals with isolated CAKUT from 590 families. In 15 of 590 families, we identified recessive mutations in the genes FRAS1, FREM2, GRIP1, FREM1, ITGA8, and GREM1, all of which function in the interaction of the ureteric bud and the metanephric mesenchyme. We show that isolated CAKUT may be caused partially by mutations in recessive genes. Our results also indicate that biallelic missense mutations in the Fraser/MOTA/BNAR spectrum genes cause isolated CAKUT, whereas truncating mutations are found in the multiorgan form of Fraser syndrome. The newly identified recessive biallelic mutations in these six genes represent the molecular cause of isolated CAKUT in 2.5% of the 590 affected families in this study.
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