Peer-reviewed veterinary case report
Genetic changes linked to stomatocytosis in dogs found by genome
By Wallace, M D et al.·Published in Gene·2025·Royal Veterinary College, United Kingdom·View original on PubMed →
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Original publication title: Whole genome sequencing identifies novel candidate genetic variants in canine stomatocytosis.
- Species:
- dog
Plain-English summary
A Beagle and an Australian Cattle Dog were diagnosed with a rare blood disorder called stomatocytosis, which affects the shape and function of red blood cells. Researchers used whole-genome sequencing to identify specific genetic changes that might be causing this condition. They found two different genetic variants in the Beagle and the Australian Cattle Dog that could be linked to stomatocytosis, along with several other related genes. This study helps shed light on the genetic factors behind this disorder, which could also have implications for understanding similar conditions in humans.
People also search for: dog stomatocytosis symptoms · Beagle blood disorder · Australian Cattle Dog genetic testing
Abstract
Stomatocytosis is a rare spectrum of red blood cell (RBC) disorders. In humans, stomatocytosis is typically caused by genetic changes in specific ion exchange and transport genes. Stomatocytosis has been identified in dogs, however the underlying genetic causes are unknown. Recently, stomatocytosis was reported in a Beagle and Australian Cattle Dog for the first time. Here, whole-genome sequencing (WGS) of these dogs was undertaken to identify candidate genetic variants driving or impacting stomatocytosis. Cases were compared to WGS of 119 controls of several breeds and > 1,000 dogs from public and private datasets. Candidate genes were identified, including genes linked to stomatocytosis in humans: SPTB and KCNN4. Notably, each case carried a different homozygous intronic SNP in SPTB only 24 bases apart (Beagle - chr8:39,194,923; ACD - chr8:39,194,947; CanFam3.1), which were not homozygous in other dogs. Variants with predicted deleterious impact in additional ion transport-related genes were also identified: SLC8A3, DYSF, SLC12A8, INPP5E, SLC1A1, and a novel SLC41A3 genetic change carried by the Australian Cattle Dog. Human and mouse scRNAseq and proteomics data indicate that these candidate genes are expressed in RBCs or their immature precursors. Taken together, these genetic data obtained from spontaneous stomatocytosis in a non-human species provide novel insights and candidate genes for evaluation of rare red cell disorders in humans.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/39929273/