Peer-reviewed veterinary case report
Genetic mutation linked to dwarfism in Miniature Shetland pony
By Metzger, Julia et al.·Published in Mammalian genome : official journal of the International Mammalian Genome Society·2017·Institute for Animal Breeding and Genetics, Germany·View original on PubMed →
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Original publication title: Whole-genome sequencing reveals a potential causal mutation for dwarfism in the Miniature Shetland pony.
- Species:
- horse
Plain-English summary
A Miniature Shetland pony was diagnosed with dwarfism, showing signs like a smaller body size, a malformed skull, and breathing difficulties due to a cleft in the palate. A CT scan confirmed these issues, and genetic testing revealed a specific mutation in the ACAN gene that was linked to the pony's condition. This mutation was not found in healthy horses, suggesting it is the cause of the dwarfism. The pony's parents carried a different version of the gene, indicating that the dwarfism was inherited.
People also search for: Miniature Shetland pony dwarfism symptoms · pony breathing problems · ACAN gene mutation in horses
Abstract
The Miniature Shetland pony represents a horse breed with an extremely small body size. Clinical examination of a dwarf Miniature Shetland pony revealed a lowered size at the withers, malformed skull and brachygnathia superior. Computed tomography (CT) showed a shortened maxilla and a cleft of the hard and soft palate which protruded into the nasal passage leading to breathing difficulties. Pathological examination confirmed these findings but did not reveal histopathological signs of premature ossification in limbs or cranial sutures. Whole-genome sequencing of this dwarf Miniature Shetland pony and comparative sequence analysis using 26 reference equids from NCBI Sequence Read Archive revealed three probably damaging missense variants which could be exclusively found in the affected foal. Validation of these three missense mutations in 159 control horses from different horse breeds and five donkeys revealed only the aggrecan (ACAN)-associated g.94370258G>C variant as homozygous wild-type in all control samples. The dwarf Miniature Shetland pony had the homozygous mutant genotype C/C of the ACAN:g.94370258G>C variant and the normal parents were heterozygous G/C. An unaffected full sib and 3/5 unaffected half-sibs were heterozygous G/C for the ACAN:g.94370258G>C variant. In summary, we could demonstrate a dwarf phenotype in a miniature pony breed perfectly associated with a missense mutation within the ACAN gene.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/27942904/