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| Ehlers-Danlos Syndrome | Cutaneous asthenia (Burmese) | ATP6V1A | ATPase H+ Transporting V1 Subunit A | unpublished | |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| Hydrocephalus | AR | (Oriental, Turkish, Toyger) | GDF7 | Growth Differentiation Factor 7 | unpublished |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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