Title: Research Communications of the 27(th) ECVIM-CA Congress: Intercontinental, Saint Julian's, Malta, 14th to 16th September 2017 Document date: 2017_11_7
ID: roslkxeq_592
Snippet: The erythrocytic cytochrome b5 reductase activity, measured by NADH-ferricyanide reductase assay, was low (6% compared to control), while the cytochrome c reductase activity was normal. A whole genome sequence (369) of this dog contained two heterozygous CYB5R3 missense mutations with a serine for glycine substitution predicted at codon 72 and a leucine for isoleucine substitution predicted at codon 190. Both missense mutations are very likely to.....
Document: The erythrocytic cytochrome b5 reductase activity, measured by NADH-ferricyanide reductase assay, was low (6% compared to control), while the cytochrome c reductase activity was normal. A whole genome sequence (369) of this dog contained two heterozygous CYB5R3 missense mutations with a serine for glycine substitution predicted at codon 72 and a leucine for isoleucine substitution predicted at codon 190. Both missense mutations are very likely to be deleterious, suggesting that each was inherited from a different parent and that each contributed to the recessive methemoglobinemia in a compound heterozygous state. This is the first molecular genetic report of CYB5R3 variants and long-term management with oral MB of hereditary methemoglobinemia of a dog with cytochrome b5 reductase deficiency. Further studies on other affected dogs are in progress.
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