Cat Genetic Mutations 05 April 2020 (Public) Table 2

The genes and DNA variants of inherited diseases common to domestic cat breeds.

Disease / Trait (alleles) OMIA Entry MOI Phenotype (Breed affected)* Gene Gene Name Mutation
AB Blood Type (A+, AB, b)[25-29] 000119-9685 AR Determines Type B, AB (Various breeds) CMAH cytidine monophospho-N-acetylneuraminic acid hydroxylase c.139G>A, c.142G>A, c.179G>T, c.268T>A, c.364C>T, c.933delA, c.1193G>T, c.1322delT, c.1603G>A
Autoimmune lymphoproliferative Disease (ALPS)[30] 002064-9685 AR non-neoplastic lymphoproliferative disease (British Shorthair) FASL FAS-ligand c.413_414insA
Craniofacial Defect[31] 001551-9685 AR Craniofacial Defect (Burmese) ALX1 Aristaless-Like Homeobox 1 c.496delCTCTCAGGACTG
Ehlers-Danlos Syndrome   Cutaneous asthenia (Burmese)   ATP6V1A ATPase H+ Transporting V1 Subunit A unpublished
FIV Resistance / Susceptibility[32] 001694-9685 AR Lentivirus resistance APOBEC3 Apolipoprotein B MRNA Editing Enzyme Catalytic Subunit 3C (AZ3Z) Haplotype V (ARAV /IRAV) c.193G>A, c.194C>T, c.203G, c.280G, c.286G
Gangliosidosis 1[33]          000402-9685 AR Lipid storage disorder (GM1) (Korat, Siamese, S.E. Asia) GLB1 Galactosidase, beta 1 c.1448G>C
Gangliosidosis 2[34]            01462-0985 AR Lipid storage disorder (GM2) (Burmese) HEXB Hexominidase B c.1356_1362delGTTCTCA
Gangliosidosis 2[35]            01462-0985 AR Lipid storage disorder (GM2) (Korat) HEXB Hexominidase B c.39delC
Glycogen Storage Dis. IV[36] 000420-9685 AR Glycogen storage disorder(GSD) (Norwegian Forest Cat) GBE1 Glycogen branching enzyme 1 IVS11+1552_IVS12-1339 del6.2kb ins334 bp
Hydrocephalus AR (Oriental, Turkish, Toyger) GDF7 Growth Differentiation Factor 7 unpublished
Hypertrophic Cardiomyopathy[37] 000515-9685 AD Cardiac disease (HCM) (Maine Coon) MYBPC Myosin binding protein C c.91G>C
Hypertrophic Cardiomyopathy[38] 000515-9685 AD Cardiac Disease (HCM) (Ragdoll) MYBPC Myosin binding protein C c.2460C>T
Hypokalemia[39] 001759-9685 AR Potassium deficiency (HK) (Burmese) WNK4 WNK lysine deficient protein kinase 4 c.2899C>T
Progressive Retinal Atropy[40] 001244-9685 AR Late onset blindness (rdAC) (Abyssinian) CEP290 Centrosomal protein 290kDa IVS50 + 9T>G
Progressive Retinal Atropy[41] 000881-9685 AD Early onset blindness (rdy) (Abyssinian) CRX Cone-rod homeobox c.546delC
Progressive Retinal Atropy 001613-9685   Mid onset blindness (Bengal) KIF3B Kinesin Family Member 3B c.1000G>A
Progressive Retinal Atropy[14] 001222-9685   Early onset blindness (Persian) AIPL1 aryl hydrocarbon receptor interacting protein-like 1 c.577C>T
Polycystic Kidney Disease[42] 000807-9685 AD Kidney cysts (PKD) (Persian) PKD1 Polycystin 1 c.10063C>A
Pyruvate Kinase Def.[43] 000844-9685 AR Hemopathy (PK Deficiency) (Abyssinian) PKLR pyruvate kinase, liver, RBC c.693+304G>A  
Spasticity[44, 45] 001621-9685 AR Congenital myasthenic syndrome (CMS) (Devon Rex) COLQ collagen-like tail subunit of asymmetric acetylcholinesterase c.1190G>A
Spinal Muscular Atrophy[46] 000939-9685 AR Muscular atrophy (SMA) (Maine Coon) LIX1-LNPEP limb expression 1 homolog –  leucyl/cystinyl aminopeptidase Partial gene deletions

‡ Mode of inheritance of the non-wild type variant.  A “+” implies the wild type allele when known. In reference to the mutant allele, AD implies autosomal dominant, AR implies autosomal recessive, co-D implies co-dominant. OMIA: Online Mendelian Inheritance in Animals entries provides links to citations and clinical descriptions of the phenotypes and the diseases. Presented citations are for the causative variant discovery.

References

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