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Ehlers-Danlos Syndrome   Cutaneous asthenia (Burmese)   ATP6V1A ATPase H+ Transporting V1 Subunit A unpublished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Hydrocephalus AR (Oriental, Turkish, Toyger) GDF7 Growth Differentiation Factor 7 unpublished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


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9. Peterschmitt, M., et al., Mutation in the melanocortin 1 receptor is associated with amber colour in the Norwegian Forest Cat. Anim Genet, 2009. 40(4): p. 547-52.

10. Gustafson, N.A., B. Gandolfi, and L.A. Lyons, Not another type of potato: MC1R and the russet coloration of Burmese cats. Anim Genet, 2016.

11. Gandolfi, B., et al., A dominant TRPV4 variant underlies osteochondrodysplasia in Scottish fold cats. Osteoarthritis Cartilage, 2016. 24(8): p. 1441-50.

12. Montague, M.J., et al., Comparative analysis of the domestic cat genome reveals genetic signatures underlying feline biology and domestication. Proc Natl Acad Sci U S A, 2014. 111(48): p. 17230-5.

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14. Lyons, L.A., et al., Whole genome sequencing in cats, identifies new models for blindness in AIPL1 and somite segmentation in HES7. BMC Genomics, 2016. 17: p. 265.

15. Xu, X., et al., Whole Genome Sequencing Identifies a Missense Mutation in HES7 Associated with Short Tails in Asian Domestic Cats. Sci Rep, 2016. 6: p. 31583.

16. Drogemuller, C., et al., Mutations within the FGF5 gene are associated with hair length in cats. Anim Genet, 2007. 38(3): p. 218-21.

17. Kehler, J.S., et al., Four independent mutations in the feline fibroblast growth factor 5 gene determine the long-haired phenotype in domestic cats. J Hered, 2007. 98(6): p. 555-66.

18. Buckingham, K.J., et al., Multiple mutant T alleles cause haploinsufficiency of Brachyury and short tails in Manx cats. Mamm Genome, 2013.

19. Lettice, L.A., et al., Point mutations in a distant sonic hedgehog cis-regulator generate a variable regulatory output responsible for preaxial polydactyly. Hum Mol Genet, 2008. 17(7): p. 978-85.

20. Gandolfi, B., et al., To the Root of the Curl: A Signature of a Recent Selective Sweep Identifies a Mutation That Defines the Cornish Rex Cat Breed. PLoS One, 2013. 8(6): p. e67105.

21. Gandolfi, B., et al., A splice variant in KRT71 is associated with curly coat phenotype of Selkirk Rex cats. Sci Rep, 2013. 3: p. 2000.

22. Pilgrim, K.L., et al., Felid sex identification based on noninvasive genetic samples. Molecular Ecology Notes, 2005. 5: p. 60-61.

23. David, V.A., et al., Endogenous retrovirus insertion in the KIT oncogene determines white and white spotting in domestic cats. G3 (Bethesda), 2014. 4(10): p. 1881-91.

24. Kaelin, C.B., et al., Specifying and sustaining pigmentation patterns in domestic and wild cats. Science, 2012. 337(6101): p. 1536-41.

25. Bighignoli, B., et al., Cytidine monophospho-N-acetylneuraminic acid hydroxylase (CMAH) mutations associated with the domestic cat AB blood group. BMC Genet, 2007. 8: p. 27.

26. Gandolfi, B., et al., A Novel Variant in CMAH Is Associated with Blood Type AB in Ragdoll Cats. PLoS One, 2016. 11(5): p. e0154973.

27. Tasker, S., et al., Feline blood genotyping versus phenotyping, and detection of non-AB blood type incompatibilities in UK cats. J Small Anim Pract, 2014. 55(4): p. 185-9.

28. Omi, T., et al., Molecular Characterization of the Cytidine Monophosphate-N-Acetylneuraminic Acid Hydroxylase (CMAH) Gene Associated with the Feline AB Blood Group System. PLoS One, 2016. 11(10): p. e0165000.

29. Kehl, A., et al., Molecular characterization of blood type A, B, and C (AB) in domestic cats and a CMAH genotyping scheme. PLoS One, 2018. 13(9): p. e0204287.

30. Aberdein, D., et al., A FAS-ligand variant associated with autoimmune lymphoproliferative syndrome in cats. Mamm Genome, 2016.

31. Lyons, L.A., et al., Aristaless-Like Homeobox protein 1 (ALX1) variant associated with craniofacial structure and frontonasal dysplasia in Burmese cats. Dev Biol, 2016. 409(2): p. 451-8.

32. Yoshikawa, R., et al., A Naturally Occurring Domestic Cat APOBEC3 Variant Confers Resistance to Feline Immunodeficiency Virus Infection. J Virol, 2015. 90(1): p. 474-85.

33. Martin, D.R., et al., Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosis. Mol Genet Metab, 2008. 94(2): p. 212-21.

34. Bradbury, A.M., et al., Neurodegenerative lysosomal storage disease in European Burmese cats with hexosaminidase beta-subunit deficiency. Mol Genet Metab, 2009. 97(1): p. 53-9.

35. Muldoon, L.L., et al., Characterization of the molecular defect in a feline model for type II GM2-gangliosidosis (Sandhoff disease). Am J Pathol, 1994. 144(5): p. 1109-18.

36. Martin, D.R., et al., Mutation of the GM2 activator protein in a feline model of GM2 gangliosidosis. Acta Neuropathol, 2005. 110(5): p. 443-50.

37. Meurs, K.M., et al., A cardiac myosin binding protein C mutation in the Maine Coon cat with familial hypertrophic cardiomyopathy. Hum Mol Genet, 2005. 14(23): p. 3587-93.

38. Meurs, K.M., et al., A substitution mutation in the myosin binding protein C gene in ragdoll hypertrophic cardiomyopathy. Genomics, 2007. 90(2): p. 261-4.

39. Gandolfi, B., et al., First WNK4-hypokalemia animal model identified by genome-wide association in Burmese cats. PLoS One, 2012. 7(12): p. e53173.

40. Menotti-Raymond, M., et al., Mutation in CEP290 discovered for cat model of human retinal degeneration. J Hered, 2007. 98(3): p. 211-20.

41. Menotti-Raymond, M., et al., Mutation discovered in a feline model of human congenital retinal blinding disease. Invest Ophthalmol Vis Sci. , 2010. 51(6): p. 2852-9.

42. Lyons, L.A., et al., Feline polycystic kidney disease mutation identified in PKD1. J Am Soc Nephrol, 2004. 15(10): p. 2548-55.

43. Grahn, R.A., et al., Erythrocyte Pyruvate Kinase Deficiency mutation identified in multiple breeds of domestic cats. BMC Vet Res, 2012. 8(1): p. 207.

44. Gandolfi, B., et al., COLQ variant associated with Devon Rex and Sphynx feline hereditary myopathy. Anim Genet, 2015. 46(6): p. 711-5.

45. Abitbol, M., et al., A COLQ Missense Mutation in Sphynx and Devon Rex Cats with Congenital Myasthenic Syndrome. PLoS One, 2015. 10(9): p. e0137019.

46. Fyfe, J.C., et al., An approximately 140-kb deletion associated with feline spinal muscular atrophy implies an essential LIX1 function for motor neuron survival. Genome Research, 2006. 16(9): p. 1084-90.

47. Owens, S.L., et al., Congenital adrenal hyperplasia associated with mutation in an 11beta-hydroxylase-like gene in a cat. J Vet Intern Med, 2012. 26(5): p. 1221-6.

48. Chang, H.S., et al., Dihydropyrimidinase deficiency: the first feline case of dihydropyrimidinuria with clinical and molecular findings. JIMD Rep, 2012. 6: p. 21-6.

49. Asada, H., et al., Hepatic copper accumulation in a young cat with familial variations in the ATP7B gene. J Vet Intern Med, 2019. 33(2): p. 874-878.

50. Mizukami, K., K. Raj, and U. Giger, Feline cystinuria caused by a missense mutation in the SLC3A1 gene. J Vet Intern Med, 2015. 29(1): p. 120-5.

51. Mizukami, K., et al., Cystinuria Associated with Different SLC7A9 Gene Variants in the Cat. PLoS One, 2016. 11(7): p. e0159247.

52. Hilton, S., K. Mizukami, and U. Giger, [Cystinuria caused by a SLC7A9 missense mutation in Siamese-crossbred littermates in Germany]. Tierarztl Prax Ausg K Kleintiere Heimtiere, 2017. 45(4): p. 265-272.

53. Spycher, M., et al., A frameshift variant in the COL5A1 gene in a cat with Ehlers-Danlos syndrome. Anim Genet, 2018. 49(6): p. 641-644.

54. Bender, D.E., et al., Molecular characterization of cat factor XII gene and identification of a mutation causing factor XII deficiency in a domestic shorthair cat colony. Vet Pathol, 2015. 52(2): p. 312-20.

55. Maruyama, H., et al., A novel missense mutation in the factor XII gene in a litter of cats with factor XII deficiency. J Vet Med Sci, 2017. 79(5): p. 822-826.

56. Maruyama, H., et al., Factor XII deficiency is common in domestic cats and associated with two high frequency F12 mutations. Gene, 2019. 706: p. 6-12.

57. Casal, M.L., et al., Identification of the Identical Human Mutation in ACVR1 in 2 Cats With Fibrodysplasia Ossificans Progressiva. Vet Pathol, 2019. 56(4): p. 614-618.

58. Uddin, M.M., et al., Identification of Bangladeshi domestic cats with GM1 gangliosidosis caused by the c.1448G>C mutation of the feline GLB1 gene: case study. J Vet Med Sci, 2013. 75(3): p. 395-7.

59. Martin, D.R., et al., An inversion of 25 base pairs causes feline GM2 gangliosidosis variant. Exp Neurol, 2004. 187(1): p. 30-7.

60. Kanae, Y., et al., Nonsense mutation of feline beta-hexosaminidase beta-subunit (HEXB) gene causing Sandhoff disease in a family of Japanese domestic cats. Res Vet Sci, 2007. 82(1): p. 54-60.

61. Kuehn, M.H., et al., Correction: A Mutation in LTBP2 Causes Congenital Glaucoma in Domestic Cats (Felis catus). PLoS One, 2016. 11(8): p. e0161517.

62. Kuehn, M.H., et al., A Mutation in LTBP2 Causes Congenital Glaucoma in Domestic Cats (Felis catus). PLoS One, 2016. 11(5): p. e0154412.

63. Goree, M., et al., Characterization of the mutations causing hemophilia B in 2 domestic cats. J Vet Intern Med, 2005. 19(2): p. 200-4.

64. Goldstein, R., et al., Primary Hyperoxaluria in cats caused by a mutation in the feline GRHPR gene. J Hered, 2009. 100(Supplement 1): p. S2-S7.

65. Hug, P., et al., A TAC3 Missense Variant in a Domestic Shorthair Cat with Testicular Hypoplasia and Persistent Primary Dentition. Genes (Basel), 2019. 10(10).

66. Giger, U., et al., Congenital hypothyroidism with goiter in cats due to a TPO mutation. J Vet Intern Med 2015. 29(448): p. Abstract ESVE-O-4.

67. Abitbol, M., et al., A deletion in FOXN1 is associated with a syndrome characterized by congenital hypotrichosis and short life expectancy in Birman cats. PLoS One, 2015. 10(3): p. e0120668.

68. De Lucia, M., et al., Genetic variant in the NSDHL gene in a cat with multiple congenital lesions resembling inflammatory linear verrucous epidermal nevi. Vet Dermatol, 2019. 30(1): p. 64-e18.

69. Bauer, T.R., Jr., et al., Feline leukocyte adhesion (CD18) deficiency caused by a deletion in the integrin beta2 (ITGB2) gene. Vet Clin Pathol, 2017. 46(3): p. 391-400.

70. Ginzinger, D.G., et al., A mutation in the lipoprotein lipase gene is the molecular basis of chylomicronemia in a colony of domestic cats. J Clin Invest, 1996. 97(5): p. 1257-66.

71. Wang, P., et al., A GNPTAB nonsense variant is associated with feline mucolipidosis II (I-cell disease). BMC Vet Res, 2018. 14(1): p. 416.

72. Berg, T., et al., Purification of feline lysosomal alpha-mannosidase, determination of its cDNA sequence and identification of a mutation causing alpha-mannosidosis in Persian cats. Biochem J, 1997. 328 ( Pt 3): p. 863-70.

73. He, X., et al., Identification and characterization of the molecular lesion causing mucopolysaccharidosis type I in cats. Mol Genet Metab, 1999. 67(2): p. 106-12.

74. Yogalingam, G., et al., Feline mucopolysaccharidosis type VI. Characterization of recombinant N-acetylgalactosamine 4-sulfatase and identification of a mutation causing the disease. J Biol Chem, 1996. 271(44): p. 27259-65.

75. Yogalingam, G., et al., Mild feline mucopolysaccharidosis type VI. Identification of an N-acetylgalactosamine-4-sulfatase mutation causing instability and increased specific activity. J Biol Chem, 1998. 273(22): p. 13421-9.

76. Crawley, A.C., et al., Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypes. J Clin Invest, 1998. 101(1): p. 109-19.

77. Fyfe, J.C., et al., Molecular basis of feline beta-glucuronidase deficiency: an animal model of mucopolysaccharidosis VII. Genomics, 1999. 58(2): p. 121-8.

78. Wang, P., et al., Mucopolysaccharidosis VII in a Cat Caused by 2 Adjacent Missense Mutations in the GUSB Gene. J Vet Intern Med, 2015. 29(4): p. 1022-8.

79. Winand, N.J., et al., Deletion of the dystrophin muscle promoter in feline muscular dystrophy. Neuromuscul Disord, 1994. 4(5-6): p. 433-45.

80. Gandolfi, B., et al., A novel mutation in CLCN1 associated with feline myotonia congenita. PLoS One, 2014. 9(10): p. e109926.

81. Somers, K., et al., Mutation analysis of feline Niemann-Pick C1 disease. Mol Genet Metab. , 2003. 79: p. 99-103.

82. Mauler, D.A., et al., Precision medicine in cats: novel Niemann-Pick Type C1 diagnosed by whole genome sequencing. Journal of Veterinary Internal Medicine, 2016. In Press.

83. Zampieri, S., et al., Characterization of a spontaneous novel mutation in the NPC2 gene in a cat affected by Niemann Pick type C disease. PLoS One, 2014. 9(11): p. e112503.

84. Clavero, S., et al., Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation. Mol Med, 2010. 16(9-10): p. 381-8.

85. Clavero, S., et al., Diagnosis of feline acute intermittent porphyria presenting with erythrodontia requires molecular analyses. Vet J, 2013. 198(3): p. 720-2.

86. Clavero, S., et al., Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations. Hum Mol Genet, 2010. 19(4): p. 584-96.

87. Teshima, T., et al., A genetic variant of CYP2R1 identified in a cat with type 1B vitamin D-dependent rickets: a case report. BMC Vet Res, 2019. 15(1): p. 62.

88. Geisen, V., K. Weber, and K. Hartmann, Vitamin D-dependent hereditary rickets type I in a cat. J Vet Intern Med, 2009. 23(1): p. 196-9.

89. Grahn, R.A., et al., A novel CYP27B1 mutation causes a feline vitamin D-dependent rickets type IA. J Feline Med Surg, 2012. 14(8): p. 587-90.