OMIA:002316-9685 : Cardiomyopathy, hypertrophic, ALMS1-related in Felis catus
Categories: Cardiovascular system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 606844 (gene) , 203800 (trait)
Links to MONDO diseases: No links.
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."
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).
|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|
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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||Inferred EVA rsID||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.||2021||33639992|
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.|
|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.|
- Created by Imke Tammen2 on 05 Mar 2021
- Changed by Imke Tammen2 on 20 May 2022
- Changed by Imke Tammen2 on 21 Apr 2023