Data Sheet 1_Renal proteomic landscape of a patient with Fanconi renotubular syndrome carrying a novel GATM variant.csv

FRTS type 1 (FRTS1) has been associated with heterozygous variants in GATM, encoding mitochondrial glycine amidinotransferase. Although GATM-related mitochondrial abnormalities have been proposed to contribute to tubular injury, the molecular alterations in human kidney tissue remain incompletely understood.</p>Methods<p>Proteomic profiling was conducted on formalin-fixed paraffin-embedded renal biopsy tissue obtained from a patient with FRTS carrying a novel heterozygous missense variant in GATM (NM_001482.3; exon 6: c.949C>T, p.Leu317Phe).

Protein abundance was quantified by data-independent acquisition mass spectrometry. Proteins showing marked deviations from control specimens were identified using a Z-score-based approach. Subsequent analyses included Gene Ontology and Kyoto Encyclopedia of Genes and Genomes pathway enrichment, gene set enrichment analysis, gene set variation analysis, and protein-protein interaction network analysis.</p>Results<p>Beyond the identification of a novel GATM variant, this study provides an exploratory proteomic characterization of renal tissue alterations in a patient with FRTS.