Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.

ABSTRACT: Background For many patients with kidney failure, the cause and underlying defect remain unknown. Here, we describe a novel mechanism of a genetic order characterized by renal Fanconi syndrome and kidney failure.Methods We clinically and genetically characterized members of five families with autosomal dominant renal Fanconi syndrome and kidney failure. We performed genome-wide linkage analysis, sequencing, and expression studies in kidney biopsy specimens and renal cells along with knockout mouse studies and evaluations of mitochondrial morphology and function. Structural studies examined the effects of recognized mutations.Results The renal disease in these patients resulted from monoallelic mutations in the gene encoding glycine amidinotransferase (GATM), a renal pr

SUBMITTER: Reichold M 

PROVIDER: S-EPMC6050927 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature