Identification of ten novel SLC5A2 mutations and determination of the renal threshold for glucose excretion in Chinese patients with familial renal glucosuria.

•Ten novel SLC5A2 mutations related to familial renal glucosuria (FRG) are found.•c.886(-10-31)del may be a hot spot mutation in Chinese population.•Lower RTG in compound heterozygotes than simple heterozygotes.•Determining RTG helps to establish a correlation between genotype and phenotype.•Mixed-meal tolerance test is a simple method for determining RTG in FRG patients.