| Primary hyperoxaluria in Coton de Tulear. | |
| | |
MedLine Citation:
|
PMID: 22486513 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
|
Primary hyperoxaluria (PH) is a rare autosomal recessive disorder of glyoxylate metabolism in humans. It is characterized by the accumulation of oxalate and subsequent precipitation of calcium oxalate crystals, primarily in the kidneys. Deficiencies in glyoxylate-metabolizing enzymes alanine-glyoxylate aminotransferase (AGXT) or glyoxylate reductase/hydroxypyruvate reductase (GRHPR) occur in 95% of PH cases. Seven Coton de Tulear puppies from four apparently unrelated litters were examined owing to sudden illness at the age of 3-4 weeks. A complete necropsy was performed. The typical finding was tubular necrosis with extensive oxalate crystal deposition. Based on history and necropsy findings, PH was suspected. Eight microsatellite loci flanking AGXT and GRHPR were analysed, and based on segregation results, AGXT was suspected as to be the candidate gene. AGXT exon sequencing revealed a single base change (c.996G>A) that changed one conserved residue (p.Gly102Ser). The mutation was tested in of 118 Finnish Coton de Tulear dogs, ten (8.5%) of which were revealed as carriers. This preliminary study reports PH as a cause of neonatal death in Finnish Coton de Tulear and suggests that genetic testing of dogs be carried out before breeding to prevent the birth of affected offspring. |
| | |
Authors:
|
G Vidgren; K Vainio-Siukola; S Honkasalo; K Dillard; M Anttila; H Vauhkonen |
Related Documents
:
|
16675603 - Fine-scale genetic structure among genetic individuals of the clone-forming monotypic g... 22638623 - Clinical usefulness of kras, braf, and pik3ca mutations as predictive markers of cetuxi... 21485383 - Rickettsia rickettsii in rhipicephalus ticks, mexicali, mexico. |
Publication Detail:
|
Type: Journal Article Date: 2011-11-08 |
Journal Detail:
|
Title: Animal genetics Volume: 43 ISSN: 1365-2052 ISO Abbreviation: Anim. Genet. Publication Date: 2012 Jun |
Date Detail:
|
Created Date: 2012-04-10 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 8605704 Medline TA: Anim Genet Country: England |
Other Details:
|
Languages: eng Pagination: 356-61 Citation Subset: IM |
Copyright Information:
|
© 2011 The Authors, Animal Genetics © 2011 Stichting International Foundation for Animal Genetics. |
Affiliation:
|
Finnish Food Safety Authority Evira, Pathology Research Unit, Mustialankatu 3, FIN-00790 Helsinki, Finland. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Genetic structure of Eurasian and North American mallard ducks based on mtDNA data.
Next Document: Electronic Interactions in Helical Stacked Arrays of the Modified DNA Base Pyrrolocytosine.