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OMIA 002316-9685 : Cardiomyopathy, hypertrophic, ALMS1-related in Felis catus

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 606844 , 203800

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)."

Breed: Sphynx.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
ALMS1 Alstrom syndrome 1 Felis catus A3 NC_018725.3 (92291204..92520581) ALMS1 Homologene, Ensembl, NCBI gene

Variants

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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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Sphynx Cardiomyopathy, hypertrophic ALMS1 missense 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 2021 33639992
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Reference


2021 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.

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  • Created by Imke Tammen2 on 05 Mar 2021