Peer-reviewed veterinary case report
Genetic mutation causes blue tongue in Pomeranian dog
By Zhou, Shijia et al.·Published in Journal of veterinary internal medicine·2019·School of Animal and Veterinary Sciences, Australia·View original on PubMed →
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Original publication title: Genetic cause for congenital methemoglobinemia in an Australian Pomeranian dog.
- Species:
- dog
Plain-English summary
A 6-year-old female Pomeranian was brought to the vet because her tongue was bluish and she had trouble exercising. During anesthesia for a procedure, the vet discovered she had a condition called congenital methemoglobinemia, which affects how blood carries oxygen. Tests revealed a genetic mutation that likely caused her symptoms. This mutation is similar to one found in other Pomeranians, suggesting it might be common in the breed. The dog’s condition was identified, but specific treatments for the genetic issue were not detailed in the study.
People also search for: Pomeranian bluish tongue · congenital methemoglobinemia in dogs · dog exercise intolerance causes
Abstract
Little is known about genetic causes of congenital methemoglobinemia in dogs. Here, we report a CYBRmutation 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 CYBRgene 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 CYBRmutation (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.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/30767280/