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Updated: May 23, 2026

Estimation of Urinary Nanocrystals in Humans using Calcium Fluorophore Labeling and Nanoparticle Tracking Analysis
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Primary hyperoxaluria in Coton de Tulear.

G Vidgren1, K Vainio-Siukola, S Honkasalo

  • 1Finnish Food Safety Authority Evira, Pathology Research Unit, Helsinki, Finland. gabriele.vidgren@evira.fi

Animal Genetics
|April 11, 2012
PubMed
Summary
This summary is machine-generated.

Primary hyperoxaluria (PH), a rare metabolic disorder, caused neonatal death in Coton de Tulear puppies. A genetic mutation in the AGXT gene was identified, and carrier testing is recommended for breeding.

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Area of Science:

  • Veterinary Medicine
  • Canine Genetics
  • Metabolic Disorders

Background:

  • Primary hyperoxaluria (PH) is a rare autosomal recessive disorder affecting glyoxylate metabolism.
  • PH leads to oxalate accumulation and calcium oxalate crystal deposition, primarily in the kidneys.
  • Deficiencies in AGXT or GRHPR enzymes cause most human PH cases.

Purpose of the Study:

  • To investigate the cause of neonatal mortality in Coton de Tulear puppies.
  • To identify the genetic basis of suspected primary hyperoxaluria in affected puppies.
  • To determine the carrier frequency of the identified mutation in the Finnish Coton de Tulear population.

Main Methods:

  • Necropsy and histopathological examination of affected puppies.
  • Microsatellite analysis to identify candidate genes (AGXT, GRHPR).
  • AGXT gene exon sequencing to detect mutations.
  • Genetic screening of a larger Coton de Tulear population for carrier status.

Main Results:

  • Necropsy revealed tubular necrosis and oxalate crystal deposition consistent with PH.
  • A novel mutation (c.996G>A) in the AGXT gene, leading to a p.Gly102Ser substitution, was identified.
  • This mutation segregated with the disease in affected litters.
  • Carrier screening identified 8.5% of 118 Finnish Coton de Tulear dogs as carriers.

Conclusions:

  • Primary hyperoxaluria is a cause of neonatal mortality in Finnish Coton de Tulear dogs.
  • The identified AGXT mutation is responsible for PH in this breed.
  • Genetic testing before breeding is crucial to prevent affected offspring.