OMIA:002316-9685 : Cardiomyopathy, hypertrophic, ALMS1-related in Felis catus (domestic cat)

Categories: Cardiovascular system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 606844 (gene) , 203800 (trait)

Mendelian trait/disorder: yes

Mode of inheritance: Probably autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2021

Molecular basis: Meurs et al. (2021) "DNA from 14 affected Sphynx cats and the 13 control cats was submitted for ... whole genome sequencing ... . The most promising variants were selected for further evaluation by Sanger Sequencing of DNA from 68 affected Sphynx diagnosed as previously described and the 214 cats with no known history of cardiac disease (controls). ... A G/C variant was identified in exon 12 (human exon 13) of the ALMS1 gene in affected cats ... . The variant was positively associated with the presence of feline hypertrophic cardiomyopathy in the cat population with a p value of < 0.0001 and was identified in 62 (27 heterozygotes, 35 homozygotes) of 71 affected Sphynx. ... The variant was predicted to change a highly conserved nonpolar Glycine to a positively charged Arginine. This was predicted to be a deleterious change by three in silico programs. Protein prediction programs indicated that the variant changed the protein structure in this region from a coil to a helix." Turba et al. (2023): "Genetic screening of the variant [A3: g.92439157G>C] ... was offered to Sphynx cat owners and breeders in Italy. ... In one case where the samples of a trio were available, inconsistency in the vertical transmission of the variant suggested an allele dropout (ADO) of the wt allele. A new external primer pair was designed as an alternative to the original. The larger PCR product obtained was Sanger sequenced, and five novel single nucleotide variants (SNVs) ... were detected. Three of these SNVs were within the original primer-binding regions and were assumed to have caused ADO. ... To accurately genotype ALMS1 g.92439157G>C in the samples, we set up a real-time TaqMan MGB assay while avoiding all surrounding SNVs. At g.92439157G>C, for 136 Sphynx cats, g.92439157 C variant was highly widespread (freq. >0.50). The present study reports five new variants surrounding ALMS1 g.92439157G>C that must be considered when designing the test. The study also indicates the need to verify the correspondence between the g.92439157 C variant frequency and the prevalence of HCM ... ."

Pathology: Meurs et al. (2021): "Light microscopy findings included myofiber disarray with interstitial fibrosis with significantly more nuclear proliferative activity in the affected cats than controls (p < 0.0001)."

Prevalence: The association between an ALMS1 variant and hypertrophic cardiomyopathy was first reported in Sphynx cats (Meurs et al., 2021). Akiyama et al. (2023) investigate “the ubiquitous occurrence of HCM-associated genetic variants [Myosin binding protein C3: MYBPC3 p.A31P, p.A74T, p.R820W; Myosin heavy chain 7: MYH7 p.E1883K; Alstrom syndrome protein 1: ALMS1 p.G3376R] among cat breeds, using 57 HCM-affected, 19 HCM-unaffected, and 227 non-examined cats from the Japanese population. Genotyping of the five variants revealed the presence of MYBPC3 p.A31P and ALMS1 p.G3376R in two (Munchkin and Scottish Fold) and five non-specific breeds (American Shorthair, Exotic Shorthair, Minuet, Munchkin and Scottish Fold), respectively, in which the variants had not been identified previously. … Overall, our results suggest that these two specific variants may still be found in other cat breeds and should be examined in detail in a population-driven manner.”

Breeds: American Shorthair (Cat) (VBO_0100018), Exotic Shorthair (Cat) (VBO_0100096), Munchkin (Cat) (VBO_0100169), Scottish Fold (Cat) (VBO_0100209), Sphynx (Cat) (VBO_0100230).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
ALMS1 Alstrom syndrome 1 Felis catus A3 NC_058370.1 (89752534..89976063) ALMS1 Homologene, Ensembl , NCBI gene


By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
1292 American Shorthair (Cat) Exotic Shorthair (Cat) Munchkin (Cat) Scottish Fold (Cat) Sphynx (Cat) Cardiomyopathy, hypertrophic ALMS1 missense Naturally occurring variant Felis_catus_9.0 A3 g.92439157G>C c.7384G>C p.(G2462R) cDNA and protein positions have been predicted using Ensemble VEP based on transcript ENSFCAT00000077013.1; variant initially reported in Sphynx cats and in a later study (Akiyama et al., 2023) identified in other breeds. Turba et al., 2023 report additional variants in the vicinity that can result in allele dropout in DNA tests and indicate "the need to verify the correspondence between the g.92439157 C variant frequency and the prevalence of HCM" due to high allele frequency of the variant in Sphynx cats in their study. rs5334475133 2021 33639992

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002316-9685: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2023 Akiyama, N., Suzuki, R., Saito, T., Yuchi, Y., Ukawa, H., Matsumoto, Y. :
Presence of known feline ALMS1 and MYBPC3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy in Japan. PLoS One 18:e0283433, 2023. Pubmed reference: 37071642. DOI: 10.1371/journal.pone.0283433.
Rivas, V.N., Stern, J.A., Ueda, Y. :
The role of personalized medicine in companion animal cardiology. Vet Clin North Am Small Anim Pract 53:1255-1276, 2023. Pubmed reference: 37423841. DOI: 10.1016/j.cvsm.2023.05.016.
Turba, M.E., Ferrari, P., Milanesi, R., Gentilini, F., Longeri, M. :
HCM-associated ALMS1 variant: Allele drop-out and frequency in Italian Sphynx cats. Anim Genet 54:643-646, 2023. Pubmed reference: 37345275. DOI: 10.1111/age.13340.
2021 Kittleson, M.D., Côté, E. :
The feline cardiomyopathies: 1. General concepts. J Feline Med Surg 23:1009-1027, 2021. Pubmed reference: 34693806. DOI: 10.1177/1098612X211021819.
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. :
A deleterious mutation in the ALMS1 gene in a naturally occurring model of hypertrophic cardiomyopathy in the Sphynx cat. Orphanet J Rare Dis 16:108, 2021. Pubmed reference: 33639992. DOI: 10.1186/s13023-021-01740-5.
2012 Chetboul, V., Petit, A., Gouni, V., Trehiou-Sechi, E., Misbach, C., Balouka, D., Carlos Sampedrano, C., Pouchelon, J.L., Tissier, R., Abitbol, M. :
Prospective echocardiographic and tissue Doppler screening of a large Sphynx cat population: reference ranges, heart disease prevalence and genetic aspects. J Vet Cardiol 14:497-509, 2012. Pubmed reference: 23131204. DOI: 10.1016/j.jvc.2012.08.001.

Edit History

  • Created by Imke Tammen2 on 05 Mar 2021
  • Changed by Imke Tammen2 on 20 May 2022
  • Changed by Imke Tammen2 on 21 Apr 2023
  • Changed by Imke Tammen2 on 23 Jun 2023