OMIA 002131-9685 : Methaemoglobinaemia, CYB5R3-related in Felis catus

In other species: dog

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 250800 (trait) , 613213 (gene)

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2019

Molecular basis: Jaffey et al. (2019): "Whole‐genome sequencing revealed a homozygous c.625G>A missense variant (B4:137967506) and a c.232‐1G>C splice acceptor variant (B4:137970815) in CYB5R3, [one in each of two affected cats] respectively, which were absent in 193 unaffected additional cats. The p.Gly209Ser missense variant likely disrupts a nicotinamide adenine dinucleotide (NADH)‐binding domain, while the splicing error occurs at the acceptor site for exon 4, which likely affects downstream translation of the protein. The 2 novel CYB5R3 variants were associated with methemoglobinemia using clinical, biochemical, genomics, and in silico protein studies."

Breed: Domestic Shorthair.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
CYB5R3 Felis catus - no genomic information (-..-) CYB5R3 Ensembl

Variants

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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
Domestic Shorthair Methaemoglobinaemia, CYB5R3-related CYB5R3 missense B4 g.137967506G>A c.625G>A p.(G209S) Jaffey e al. (2019): "p.Gly209Ser amino acid change in transcript CYB5R3-202 (ENSFCAT00000056925) at position B4:137967506" 2019 31650629
Domestic Shorthair Methaemoglobinaemia, CYB5R3-related CYB5R3 splicing B4 g.137970815G>C c.232-1G>C Jaffey et al. (2019): "a putative loss of function splice acceptor variant at c.232-1G>C in the CYB5R3-202 transcript (ENSFCAT00000056925) at position B4:137970815 that is in the acceptor site for exon 4, which likely affects downstream translation of the protein." 2019 31650629

Reference


2019 Jaffey, J.A., Reading, N.S., Giger, U., Abdulmalik, O., Buckley, R.M., Johnstone, S., Lyons, L.A. :
Clinical, metabolic, and genetic characterization of hereditary methemoglobinemia caused by cytochrome b<sub>5</sub> reductase deficiency in cats. J Vet Intern Med 33:2725-2731, 2019. Pubmed reference: 31650629. DOI: 10.1111/jvim.15637.

Edit History


  • Created by Frank Nicholas on 03 Feb 2020
  • Changed by Frank Nicholas on 03 Feb 2020