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COL4A3 gene variants and diabetic kidney disease in MODY

Clinical Journal of the American Society of Nephrology Jul 21, 2018

Wang Y, et al. - In this study including nine maturity-onset diabetes in young (MODY) probands with kidney biopsy-proven diabetic kidney disease (DKD), researchers investigated the contribution of the variants in susceptibility genes of DKD to the severity of kidney phenotype between the probands and their parents. They reviewed known DKD susceptibility genes for suspected MODY probands and their families identified via whole-exome sequencing. They selected and analyzed variants related to DKD, or those with minor allele frequency <0.05 and predicted to be pathogenic. They performed immunofluorescence staining of COL4α3 in kidney specimens of patients with DKD with or without R408H and M1209I of COL4A3 variants. They found more severe kidney phenotype in probands with kidney biopsy-proven DKD was partially explained by the observed genetic impact of more pathogenic variants in various DKD susceptibility genes, especially variants in the COL4A3 gene.
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