OMIA:002858-9615 : Methaemoglobinaemia, CYB5A-related in Canis lupus familiaris (dog)

Categories: Haematopoietic system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 250790 (trait) , 613218 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Probably autosomal recessive

Considered a defect: yes

Key variant known: no

Molecular basis: McKenna et al. (2014) report a Pit Bull mix dog with congenital methemoglobinemia with normal cytochrome b 5 reductase  activity. Resequencing of the candidate genes CYB5R3 and CYB5A in the affected dog and variant analysis identified two variants in CYB5A: 68 G>A, p.Ser23Asn and 'a heterozygous 37 bp promoter deletion at −324_−287 ... (chr1:5070633‐5070670) ... ." The authors concluded that it "is therefore likely that one or both of these CYB5A variants contributed to decreased b5 protein expression and impaired methemoglobin reduction in this dog. ... Further functional characterization of both novel CYB5A variants is warranted."

Breed: Mixed Breed (Dog) (VBO_0200902).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
CYB5A cytochrome b5 type A Canis lupus familiaris 1 NC_051805.1 (4873155..4918572) CYB5A Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002858-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

2014 McKenna, J.A., Sacco, J., Son, T.T., Trepanier, L.A., Callan, M.B., Harvey, J.W., Arndt, J.W. :
Congenital methemoglobinemia in a dog with a promoter deletion and a nonsynonymous coding variant in the gene encoding cytochrome b₅. J Vet Intern Med 28:1626-31, 2014. Pubmed reference: 25145387. DOI: 10.1111/jvim.12423.

Edit History


  • Created by Imke Tammen2 on 26 May 2024
  • Changed by Imke Tammen2 on 26 May 2024