OMIA 002131-9615 : Methaemoglobinaemia, CYB5R3-related in Canis lupus familiaris
Shino et al. (2018) reported a likely causal variant in Pomeranians, namely c.580A>C; p.Ile194Leu. But the evidence supporting the causality of this variant is marginal, comprising an affected sire and his two affected offspring being homozygous for the C variant, with 5 unrelated normal Pomeranians and some normal Beagles being homozygous for the A variant.Clinical features: Jaffey et al. (2017): "Arterial blood gas analysis with co-oximetry identified methemoglobinemia concurrent with normal arterial oxygen tension at FIO2 = 0.21, which supported a nonrespiratory cause for cyanosis, tachypnea, and exercise intolerance." Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CYB5R3||cytochrome b5 reductase 3||Canis lupus familiaris||10||NC_006592.3 (22829898..22848284)||CYB5R3||Homologene, Ensembl, NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
|Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Year Published||PubMed ID(s)||Acknowledgements|
|Mixed breed||Methemoglobinaemia, CYB5R3-related||CYB5R3||missense||CanFam3.1||10||g.22832963G>A||c.214G>A||p.Gly72Ser||2017||28963729||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2018||Shino, H., Otsuka-Yamasaki, Y., Sato, T., Ooi, K., Inanami, O., Sato, R., Yamasaki, M. :|
|Familial Congenital Methemoglobinemia in Pomeranian Dogs Caused by a Missense Variant in the NADH-Cytochrome B5 Reductase Gene. J Vet Intern Med 32:165-171, 2018. Pubmed reference: 29356095. DOI: 10.1111/jvim.15031.|
|2017||Jaffey, J.A., Harmon, M.R., Villani, N.A., Creighton, E.K., Johnson, G.S., Giger, U., Dodam, J.R. :|
|Long-term Treatment with Methylene Blue in a Dog with Hereditary Methemoglobinemia Caused by Cytochrome b5 Reductase Deficiency. J Vet Intern Med :, 2017. Pubmed reference: 28963729. DOI: 10.1111/jvim.14843.|
- Created by Frank Nicholas on 21 Oct 2017
- Changed by Frank Nicholas on 21 Oct 2017
- Changed by Frank Nicholas on 23 Oct 2017
- Changed by Frank Nicholas on 02 Feb 2018