Article
Mutation in the Monocarboxylate Transporter 12 Gene Affects Guanidinoacetate Excretion but Does Not Cause Glucosuria.
Journal of the American Society of Nephrology : JASN - 1 May 2016
Dhayat Nasser, Simonin Alexandre, Anderegg Manuel, Pathare Ganesh, Lüscher Benjamin P, Deisl Christine, Albano Giuseppe, Mordasini David, Hediger Matthias A, Surbek Daniel V, Vogt Bruno, Sass Jörn Oliver, Kloeckener-Gruissem Barbara, Fuster Daniel G
Abstract excerpt
A heterozygous mutation (c.643C>A; p.Q215X) in the monocarboxylate transporter 12-encoding gene MCT12 (also known as SLC16A12) that mediates creatine transport was recently identified as the cause of a syndrome with juvenile cataracts, microcornea, and glucosuria in a single family. Whereas the MCT12 mutation cosegregated with the eye phenotype, poor correlation with the glucosuria phenotype did not support a...
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