Affected genes: ALMS1
Transmission: Probably autosomal recessive Dominant
Mutation: Felis_catus_9.0 A3 g.92439157G>C c.7384G>C
OMIA link: 002316-9685Breeds suitable for testing: Sphinx
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. : 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.
Hypertrophic Cardiomyopathy (HCM, Sphinx), ALMS1 Gene
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