Peer-reviewed veterinary case report
Genetic study of atrial septal defect in Doberman Pinschers
By Lee, Shin-Aeh et al.·Published in Journal of genetics·2007·School of Veterinary Medicine, South Korea·View original on PubMed →
PetCaseFinder translated the abstract of this peer-reviewed paper into plain English so pet owners can read it. We do not publish original research — every detail traces back to the citation above. How we work →
Original publication title: Isolation, characterization and genetic analysis of canine GATA4 gene in a family of Doberman Pinschers with an atrial septal defect.
- Species:
- dog
Plain-English summary
A family of Doberman Pinschers was studied because several of the dogs had an atrial septal defect (ASD), a type of heart problem that is rare in dogs. Researchers looked at the GATA4 gene, which is known to be involved in heart development, but they did not find any mutations that would cause issues in these dogs. This suggests that while GATA4 might not be the cause of ASD in this particular family, it could still play a role in other breeds. Understanding the genetic factors behind heart defects like ASD can help in managing and treating affected dogs.
People also search for: Doberman Pinscher heart problems · atrial septal defect in dogs · GATA4 gene and dog heart disease
Abstract
GATA4 is expressed early in the developing heart where it plays a key role in regulating the expression of genes encoding myocardial contractile proteins. Gene mutations in the human GATA4 have been implicated in various congenital heart defects (CHD), including atrial septal defect (ASD). Although ASD is the third most common CHD in humans, it is generally rare in dogs and cats. There is also no obvious predilection for ASD in dogs and cats, based on sex or breed. However, among dogs, the incidence rate of ASD is relatively high in Samoyeds and Doberman Pinschers, where its inheritance and genetic aetiology are not well understood. In this study, we identified and investigated the genetic aetiology of an ASD affected family in a pure breed dog population. Although the GATA4 gene was screened, we did not find any mutations that would result in the alteration of the coding sequence and hence, the predicted GATA4 structure and function. Although the aetiology of ASD is multifactorial, our findings indicate that GATA4 may not be responsible for the ASD in the dogs used in this study. However, this does not eliminate GATA4 as a candidate for ASD in other dog breeds.
Find similar cases for your pet
PetCaseFinder finds other peer-reviewed reports of pets with the same symptoms, plus a plain-English summary of what was tried across them.
Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/18305343/