Peer-reviewed veterinary case report
Gene linked to radial hemimelia birth defect in Siamese cats
By Bilgen, Nüket et al.·Published in Journal of feline medicine and surgery·2023·Faculty of Veterinary Medicine·View original on PubMed →
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Original publication title: () implicated as a genetic risk factor for radial hemimelia in Siamese cats.
- Species:
- cat
Plain-English summary
Two Siamese kittens were found to have a condition called radial hemimelia, which means they were born with missing or malformed bones in their front legs. The female kitten had no radii bones and her bones were bent, while the male had a poorly formed radius. Genetic testing revealed that both affected kittens inherited specific genetic variants from their parents that could be linked to this bone development issue. The study suggests that this condition is inherited in an autosomal recessive manner, meaning both parents must carry the gene for it to appear in their offspring. Breeders are encouraged to test for these genetic variants to help prevent this condition in future litters.
People also search for: Siamese cat bone problems · radial hemimelia in cats · genetic testing for cats · kitten leg deformities · congenital bone issues in cats
Abstract
OBJECTIVES: The present study aimed to determine the inheritance pattern and genetic cause of congenital radial hemimelia (RH) in cats. METHODS: Clinical and genetic analyses were conducted on a Siamese cat family (n = 18), including two siblings with RH. Radiographs were obtained for the affected kittens and echocardiograms of an affected kitten and sire. Whole genome sequencing was completed on the two cases and the parents. Genomic data were compared with the 99 Lives Cat Genome data set of 420 additional domestic cats with whole genome and whole exome sequencing data. Variants were considered as homozygous in the two cases of the siblings with RH and heterozygous in the parents. Candidate variants were genotyped by Sanger sequencing in the extended pedigree. RESULTS: Radiographs of the female kitten revealed bilateral absence of the radii and bowing of the humeri, while the male kitten showed a dysplastic right radius. Echocardiography suggested the female kitten had restrictive cardiomyopathy with a positive left atrial-to-aortic root ratio (LA:Ao = 1.83 cm), whereas hypertrophic cardiomyopathy was more likely in the sire, showing diastolic dysfunction using tissue Doppler imaging (59.06 cm/s). Twenty-two DNA variants were unique and homozygous in the affected kittens and heterozygous in the parents. Seven variants clustered in one chromosomal region, including two frameshift variants in() and five variants in,( ), including a missense and an in-frame deletion. CONCLUSIONS AND RELEVANCE: The present study suggested an autosomal recessive mode of inheritance with variable expression for RH in the Siamese cat family. Candidate variants for the phenotype were identified, implicating their roles in bone development. These genes should be considered as potentially causal for other cats with RH. Siamese cat breeders should consider genetically testing their cats for these variants to prevent further dissemination of the suspected variants within the breed.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/37791865/