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Genetic cause for congenital methemoglobinemia in an Australian Pomeranian dog.
Zhou, Shijia; Tearle, Rick; Jozani, Raziallah Jafari; Winra, Bethany; Schaaf, Olaf; Nicholson, Anthony; Peaston, Anne.
Afiliación
  • Zhou S; School of Animal and Veterinary Sciences, The University of Adelaide, Roseworthy, South Australia, Australia.
  • Tearle R; School of Animal and Veterinary Sciences, The University of Adelaide, Roseworthy, South Australia, Australia.
  • Jozani RJ; School of Animal and Veterinary Sciences, The University of Adelaide, Roseworthy, South Australia, Australia.
  • Winra B; School of Animal and Veterinary Sciences, The University of Adelaide, Roseworthy, South Australia, Australia.
  • Schaaf O; School of Animal and Veterinary Sciences, The University of Adelaide, Roseworthy, South Australia, Australia.
  • Nicholson A; School of Animal and Veterinary Sciences, The University of Adelaide, Roseworthy, South Australia, Australia.
  • Peaston A; School of Animal and Veterinary Sciences, The University of Adelaide, Roseworthy, South Australia, Australia.
J Vet Intern Med ; 33(2): 868-873, 2019 Mar.
Article en En | MEDLINE | ID: mdl-30767280
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Citocromo-B(5) Reductasa / Enfermedades de los Perros / Metahemoglobinemia Tipo de estudio: Diagnostic_studies Límite: Animals País/Región como asunto: Oceania Idioma: En Revista: J Vet Intern Med Asunto de la revista: MEDICINA INTERNA / MEDICINA VETERINARIA Año: 2019 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Citocromo-B(5) Reductasa / Enfermedades de los Perros / Metahemoglobinemia Tipo de estudio: Diagnostic_studies Límite: Animals País/Región como asunto: Oceania Idioma: En Revista: J Vet Intern Med Asunto de la revista: MEDICINA INTERNA / MEDICINA VETERINARIA Año: 2019 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Estados Unidos