Peer-reviewed veterinary case report
Genetic cause of breathing problems in Australian Shepherd dog
By Christen, Matthias et al.·Published in Animal genetics·2023·Institute of Genetics·View original on PubMed →
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Original publication title: STK36 splice site variant in an Australian Shepherd dog with primary ciliary dyskinesia.
- Species:
- dog
Plain-English summary
A 3-year-old Australian Shepherd was brought in due to frequent respiratory infections and a runny nose. Tests revealed that the dog had primary ciliary dyskinesia (PCD), a condition that affects the movement of tiny hair-like structures in the respiratory system, leading to breathing issues. Genetic testing identified a specific mutation in the STK36 gene that is linked to PCD. Unfortunately, there is no cure for this condition, but understanding the genetic cause can help manage the dog's symptoms and guide future care.
People also search for: Australian Shepherd respiratory problems · dog nasal discharge treatment · primary ciliary dyskinesia in dogs
Abstract
Primary ciliary dyskinesia (PCD) represents a group of diseases characterized by impaired movement of cilia and subsequent health problems in diverse organ systems, notably the respiratory tract. Almost 50 candidate genes for PCD are known in humans. In this study, we investigated an Australian Shepherd dog with a history of recurrent respiratory infections and nasal discharge. A transmission electron microscopy investigation led to the diagnosis of PCD with central pair defect, in which the normal 9:2 arrangement of respiratory cilia was altered and reduced to a 9:0 arrangement. Whole genome sequencing data from the affected dog was obtained and searched for variants in PCD candidate genes that were not present in 918 control genomes from different breeds. This revealed a homozygous single base pair exchange at a splice site of STK36, XM_038585732.1:c.2868-1G>A. The mutant allele was absent from 281 additionally genotyped Australian Shepherd dogs. RT-PCR confirmed aberrant splicing in the affected dog with the skipping of exon 20 and the insertion of a cryptic exon, which is predicted to lead to a premature stop codon and truncation of 36% of the STK36 wild-type open reading frame, XP_038441660.1:(p.Met957Profs*11). STK36 variants were previously reported to cause PCD in humans and mice. The knowledge from other species together with the absence of the mutant allele in more than 1000 control dogs suggests STK36:c.2868-1G>A as the most likely candidate variant for PCD in the investigated case.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/36786090/