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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)
Published on: August 21, 2016
Genetic Screening of Patients With Inherited Fanconi Syndrome
Yuta Inoki1, Nana Sakakibara1, Asahi Yamamoto1,2
1Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Kidney International Reports
|June 12, 2026
Summary
Fanconi renotubular syndrome (FRTS) genetic causes are often missed. This study highlights the prevalence of GATM variants in FRTS, revealing a broader clinical spectrum and progressive kidney disease, suggesting GATM should be considered in unexplained kidney issues.
Area of Science:
- Genetics
- Nephrology
- Rare Diseases
Background:
- Fanconi renotubular syndrome (FRTS) is a rare kidney disorder with an incompletely understood genetic basis.
- The role of genes like GATM in FRTS has not been systematically evaluated.
Purpose of the Study:
- To characterize the clinical and genetic spectrum of inherited FRTS.
- To assess the prevalence and clinical impact of GATM variants in FRTS patients.
Main Methods:
- Retrospective analysis of 20 families with FRTS.
- Targeted panel sequencing to identify pathogenic variants.
- Review of previously reported cases to expand phenotypic understanding.
Main Results:
- Pathogenic variants were found in 65% of index cases, with GATM variants being the most common (n=7).
- Novel GATM variants were identified, expanding the known clinical spectrum of FRTS.
- GATM-associated FRTS presents with progressive kidney dysfunction, with a median kidney survival age of 51.9 years.
Conclusions:
- GATM variants are a significant, under-recognized cause of FRTS.
- GATM variants are associated with phenotypic variability and progressive kidney disease.
- Consider GATM variants in patients with proximal tubular abnormalities or unexplained chronic kidney disease (CKD).
