Cat Genetic Mutations 05 April 2020 (Public) Table 3

The genes and DNA variants of uncommon inherited domestic cat diseases.

Disease / OMIA Entry OMIA Entry Gene Mutation
11b-hydroxylase Def. (Congenital Adrenal Hyperplasia)[47] 001661-9685 CYP11B1 Exon 7 G>A
Dihydropyrimidinase Deficiency[48] 001776-9685 DPYS c.1303G>A
Cerebral dysgenesis      
Chediak-Higashi Syndrome 000185-9685 LYST 20 Kb duplication
Copper Metabolism[49] 001071-9685 ATP7B c.1585G>A, c.3890C>G
Cystinuria, Type 1A[50] 000256-9685 SLC3A1 c.1342C>T
Cystinuria, Type B[51, 52] 002023-9685 SLC7A9 c.706G>A, c.881T>A, c.1175C>T
Ehlers-Danlos Syndrome[53] 002165-9685 COL5A1 c.3420delG
Factor XII Deficiency[54-56] 000364-9685 FXII c.1321delC; c.1631G>C, c.1549C > T
Fibrodysplasia Ossificans Progressiva[57] 000388-9685 ACVR1 c.617G>A
Gangliosidosis 1[58] 000402-9685 GLB1 c.1448G>C
Gangliosidosis 2[59] 001462-9685 HEXB c.1467_1491inv
Gangliosidosis 2[60] 001462-9685 HEXB c.667C>T
Gangliosidosis 2[36] 001427-9685 GM2A c.390_393GGTC
Glaucoma 3, primary congenital[61, 62] 002017-9685 LTBP2 c.1998insGGAG
Hemophilia B[63] 000438-9685 F9 c.247G>A, c.1014C>T
Hypertrophic Cardiomyopathy 002212-9685 MYH7 c.5647G>A
Hyperoxaluria[64] 000821-9685 GRHPR G>A I4 acceptor site
Hypogonadotropic hypogonadism[65] 002219-9685 TAC3 c.220G>A
Hypothyroidism[66] 000536-9685 TPO c.1333G>A
Hypotrichosis, Congenital with Short Life Expectancy[67] 001949-9685 FOXN1 c.1030_1033delCTGT
Inflammatory linear verrucous epidermal nevi[68] 002185-9685 NSDHL c.397A>G
Leukocyte adhesion deficiency[69] 000595-9685 ITGB2 c.46_58 + 11del
Lipoprotein Lipase Deficiency[70] 001210-9685 LPL c.1234G>A
Mucolipidosis II[71] 001248-9685 GNPTAB c.2644C>T
Mannosidosis, alpha[72] 000625-9685 LAMAN c.1749_1752delCCAG
Mucopolysaccharidosis I[73] 000664-9685 IDUA c.1107_1109delCGA; c.1108_1110GAC
Mucopolysaccharidosis VI[74] 000666-9685 ARSB c.1427T>C
Mucopolysaccharidosis VI[75, 76] 000666-9685 ARSB c.1558G>A
Mucopolysaccharidosis VII[77, 78] 000667-9685 GUSB c.1052A>G; c.1421T>G and c.1424C>T
Multiple Systems Degeneration      
Muscular Dystrophy[79] 001081-9685 DMD 900bp del M promoter -exon 1
Myotonia Congenita[80] 000698-9685 CLCN1 c.1930+1G>T
Niemann-Pick C1[81, 82] 000725-9685 NPC1 c.2864G>C, c.1322A>C
Niemann-Pick C2[83] 002065-9685 NPC2 c.82+5G>A
Neuronal ceroid lipofuscinosis (NCL6)      
Neuronal ceroid lipofuscinosis (NCL7){Guevar, 2020 #119} 001962-9585 MFSD8 c.19G>C, c.780delT
Porphyria (congenital erythropoietic)[84, 85]* 001175-9685 UROS c.140C>T, c.331G>A
Porphyria (acute intermittent)[85, 86]* 001493-9685 HMBS c.842_844delGAG, c.189dupT, c.250G>A, c.445C>T, c.107_110delACAG, c.826-1G>A
Rickets – Type IB[87] 002221-9685 CYP2R1 c.1386delT
Testicular hypoplasia persistent primary dentition{Hug, 2019 #118} 002219-9685 TAC3 c.220G>A
Vitamin D Resistant Rickets[88] 000837-9685 CYP27B1 c.731delG
Vitamin D Resistant Rickets[89] 000837-9685 CYP27B1 c.637G>T

† The presented conditions are not prevalent in breeds or populations but may have been established into research colonies.  ‡ Not all transcripts for a given gene may have been discovered or well documented in the cat, mutations presented as interpreted from original publication. *A variety of DNA variants have been identified, yet unpublished for porphyrias in domestic cats.  Contact PennGen at the University of Pennsylvania for additional information.  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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