Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria

@article{Calado2003NovelCH,
  title={Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria},
  author={Joaquim Tomaz Calado and Karina Soto and Carla Clemente and Pedro Correia and Jos{\'e} Rueff},
  journal={Human Genetics},
  year={2003},
  volume={114},
  pages={314-316}
}
Familial renal glucosuria is an inherited renal tubular disorder. A homozygous nonsense mutation in the SLC5A2 gene, encoding the sodium/glucose co-transporter SGLT2, has recently been identified in an affected child of consanguineous parents. We now report novel compound heterozygous mutations in the son of non-consanguineous parents. One allele has a p.Q167fsX186 mutation, which is expected to produce a truncated protein, and the other a p.N654S mutation involving a highly conserved residue… CONTINUE READING

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