Genetic cause for congenital methemoglobinemia in an Australian Pomeranian dog
| Autor: | Rick Tearle, Bethany Winra, Raziallah Jafari Jozani, Shijia Zhou, Olaf R. Schaaf, Anthony Nicholson, A. E. Peaston |
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| Rok vydání: | 2019 |
| Předmět: |
040301 veterinary sciences
cytochrome b5 reductase Case Report Case Reports 030204 cardiovascular system & hematology Methemoglobinemia 0403 veterinary science 03 medical and health sciences 0302 clinical medicine hemic and lymphatic diseases medicine Missense mutation Pomeranian methemoglobin Gene Genetics General Veterinary business.industry cyanosis Hematology 04 agricultural and veterinary sciences medicine.disease genomic DNA Pomeranian dog dog Mutation (genetic algorithm) Congenital Methemoglobinemia SMALL ANIMAL mutation business |
| Zdroj: | Journal of Veterinary Internal Medicine |
| ISSN: | 1939-1676 0891-6640 |
| Popis: | Little is known about genetic causes of congenital methemoglobinemia in dogs. Here, we report a CYB5 R3 mutation in a Pomeranian dog with congenital methemoglobinemia. A 6-year-old neutered female Pomeranian dog was investigated for cyanosis noticed during anesthesia for an orthopedic procedure. The history included lifelong mild exercise intolerance and bluish tongue. Methemoglobinemia was diagnosed using co-oximetry. The CYB5 R3 gene was analyzed by comparing the patient's genomic DNA with the reference canine sequence. Mutation functional significance was investigated using snpEff and multispecies protein homology analyses. A homozygous missense single nucleotide CYB5 R3 mutation (ATC ➔ CTC at codon 194) caused a p.Ile194Leu substitution. The pIle194 residue is highly conserved in other mammals, supporting the likely pathogenicity of the substitution. The mutation described here is identical to that associated with familial methemoglobinemia in a family of Japanese Pomeranian dogs. This observation, together with the homozygous mutation found in our case, indicates that the mutant allele may be widespread within the Pomeranian breed internationally. |
| Databáze: | OpenAIRE |
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