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Hypertrophic Cardiomyopathy Sphynx Type
| Acronym: | HCM |
| Gene: | ALMS1 |
| Mutation: | c.7384G>C |
| Inheritance: | Autosomal dominant with incomplete penetrance |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Hypertrophic Cardiomyopathy is a common genetic cardiovascular disorder that has been described in humans and various types of animals including cats. The first type of HC found in cats has been identified in Sphynxs and it has been associated with a single base pair change mutation in the ALMS1 gene. ALMS1 encodes for a ubiquitously expressed protein whose function is still not well understood although it is believed to be associated with energy metabolism and homeostasis, cell differentiation, and cell cycle control. The ALMS1 protein has also been shown to be involved in the regulation of cell cycle proliferation in perinatal cardiomyocytes and thus, its malfunction may cause developing congestive heart failure or sudden cardiac death in affected individuals. Affected cats usually show significantly more myocyte nuclear activity which may be lead to impaired myocyte cell cycle arrest. The disease has a late onset and does not show up until the cat reaches adulthood, between 2-3 years of age.
The mode of inheritance for this type of cardiomyopathy that affects Sphynxs is yet to be defined, but the most probable mode is an autosomal recessive one. That means Sphynx cats that carry both mutated ALMS1 genes will develop the disease, whilst those which carry only one mutated gene will act as carriers and pass the mutation to their offspring. Early genetic testing can help identify cats that carry the gene with the specific mutation and prevent their further breeding by proper selection of mating pairs.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
AFFECTED HETEROZYGOTE |
Tested mutation was detected in animal with „affected heterozygote“ result. Animal tested as affected heterozygote has one wild-type and one mutation allele, it is in heterozygous state. It is likely to develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
**Penetrance of tested mutation, and potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Meurs, K. M., Williams, B. G., DeProspero, D., Friedenberg, S. G., Malarkey, D. E., Ezzell, J. A., Keene, B. W., Adin, D. B., DeFrancesco, T. C., Tou, S. (2021). A deleterious mutation in the ALMS1 gene in a naturally occurring model of hypertrophic cardiomyopathy in the Sphynx cat. Orphanet journal of rare diseases, 16(1), 108. https://doi.org/10.1186/s13023-021-01740-5
Kittleson, M. D., Côté, E. (2021). The Feline Cardiomyopathies: 2. Hypertrophic cardiomyopathy. Journal of feline medicine and surgery, 23(11), 1028–1051. https://doi.org/10.1177/1098612X211020162