ArticleAmerican journal of human genetics2001
Genetic and physical mapping of the locus for autosomal dominant renal Fanconi syndrome, on chromosome 15q15.3.
Article in American journal of human genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 41 citations in OpenAlex.
- Article
- Inherited Fanconi syndrome.World journal of pediatrics : WJP · 2023Review
- A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to end-stage kidney disease.Clinical genetics · 2023Article
- Altered Serum Uric Acid Levels in Kidney Disorders.Life (Basel, Switzerland) · 2022Review
- The Causes of Hypo- and Hyperphosphatemia in Humans.Calcified tissue international · 2021Review
- Distinct Mitochondrial Pathologies Caused by Mutations of the Proximal Tubular Enzymes EHHADH and GATM.Frontiers in physiology · 2021Review
- Review
- Adult Idiopathic Renal Fanconi Syndrome: A Case Report.Electrolyte & blood pressure : E & BP · 2018Article
- Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.Journal of the American Society of Nephrology : JASN · 2018Article
- Salt-Losing Tubulopathies in Children: What's New, What's Controversial?Journal of the American Society of Nephrology : JASN · 2018Review
- The bigger the better: determining nephron size in kidney.Pediatric nephrology (Berlin, Germany) · 2014Review
- The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.Journal of medical genetics · 2014Article
- Tumor-induced osteomalacia.Endocrine-related cancer · 2011Review
- Fanconi or not Fanconi? Lowe syndrome revisited.Clinical journal of the American Society of Nephrology : CJASN · 2008Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autosomal dominant renal Fanconi syndrome is a genetic model for the study of proximal renal tubular transport pathology. We were able to map the locus for this disease to human chromosome 15q15.3 by genotyping a central Wisconsin pedigree with 10 affected individuals. After a whole-genome scan with highly polymorphic simple sequence repeat markers, a maximum LOD score of 3.01 was calculated for marker D15S659 on chromosome 15q15.3. Linkage and haplotype analysis for an additional 24 markers flanking D15S659 narrowed the interval to approximately 3 cM, with the two highest single-point LOD scores observed being 4.44 and 4.68 (for D15S182 and D15S537, respectively). Subsequently, a complete bacterial artificial chromosome contig was constructed, from the High Throughput Genomic Sequence Database, for the region bounded by D15S182 and D15S143. The identification of the gene and gene product altered in autosomal dominant renal Fanconi syndrome will allow the study of the physiology of proximal renal tubular transport.
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