Clinical, metabolic, and genetic characterization of hereditary methemoglobinemia caused by cytochrome b(5) reductase deficiency in cats

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99 Lives Cat Genome Consortium , Jaffey , J A , Reading , N S , Giger , U , Abdulmalik , O , Buckley , R M , Johnstone , S , Lyons , L A & Lohi , H 2019 , ' Clinical, metabolic, and genetic characterization of hereditary methemoglobinemia caused by cytochrome b(5) reductase deficiency in cats ' , Journal of Veterinary Internal Medicine , vol. 33 , no. 6 , pp. 2725-2731 . https://doi.org/10.1111/jvim.15637

Title: Clinical, metabolic, and genetic characterization of hereditary methemoglobinemia caused by cytochrome b(5) reductase deficiency in cats
Author: 99 Lives Cat Genome Consortium; Jaffey, Jared A.; Reading, N. Scott; Giger, Urs; Abdulmalik, Osheiza; Buckley, Ruben M.; Johnstone, Sophie; Lyons, Leslie A.; Lohi, Hannes
Contributor: University of Helsinki, Helsinki One Health (HOH)
Date: 2019-11
Language: eng
Number of pages: 7
Belongs to series: Journal of Veterinary Internal Medicine
ISSN: 0891-6640
URI: http://hdl.handle.net/10138/310593
Abstract: Two non-pedigreed male castrated cats had persistent cyanosis over a 3-year observation period. Clinical cardiopulmonary evaluations did not reveal abnormalities, but the blood remained dark after exposure to air. Erythrocytic methemoglobin concentrations were high (40% of hemoglobin) and cytochrome b(5) reductase (CYB5R) activities in erythrocytes were low (A missense variant (B4:137967506) and a c.232-1G>C splice acceptor variant (B4:137970815) in CYB5R3, 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. The variant prevalence is unknown in the cat population.
Subject: cyanosis
cytochrome b(5) reductase
methylene blue
whole-genome sequencing
RECESSIVE CONGENITAL METHEMOGLOBINEMIA
METHYLENE-BLUE
MUTATION
VARIANT
DIAGNOSIS
SERVER
DOGS
1184 Genetics, developmental biology, physiology
413 Veterinary science
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