Equine diseases caused by known genetic mutations

Veterinary Journal

Volumn 179, Issue 3, 2009, Pages 336-347

  Finno, Carrie J ^a   Spier, Sharon J ^b   Valberg, Stephanie J ^c  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF MINNESOTA   (United States)

Author keywords

Genetics; Hereditary; Horse; Mutations

Indexed keywords

ACETAZOLAMIDE; ADENOVIRUS ANTIBODY; ADRENALIN; BICARBONATE; DANTROLENE; GLUCONATE CALCIUM; GLUCOSE; HYDROCHLOROTHIAZIDE; UNCLASSIFIED DRUG; VIRUS ANTIBODY;

BONE MARROW TRANSPLANTATION; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; DIET THERAPY; DISEASE CONTROL; DRUG MECHANISM; ENZYME DEFICIENCY; EPIDERMOLYSIS BULLOSA; EXERCISE; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GENOME; GLYCOGEN BRANCHING ENZYME DEFICIENCY; HEREDITARY EQUINE REGIONAL DERMAL ASTHENIA; HORSE DISEASE; MALIGNANT HYPERTHERMIA; NONHUMAN; OVERO LETHAL WHITE FOAL SYNDROME; PATHOGENESIS; PERIODIC PARALYSIS; POLYSACCHARIDE STORAGE MYOPATHY; PROGNOSIS; REVIEW; SEVERE COMBINED IMMUNODEFICIENCY;

ANIMALS; CHROMOSOME MAPPING; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HORSE DISEASES; HORSES; MALE; MUTATION; PREVALENCE; PROGNOSIS;

EQUIDAE;

EID: 58949085849     PISSN: 10900233     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.tvjl.2008.03.016     Document Type: Review

References (83)

1. Aleman M., Riehl J., Aldridge B.M., Lecouteur R.A., Stott J.L., and Pessah I.N. Association of a mutation in the ryanodine receptor 1 gene with equine malignant hyperthermia. Muscle Nerve 30 (2004) 356-365
2. Aleman M., Brosnan R.J., Williams D.C., Lecouteur R.A., Imai A., Tharp B.R., and Steffey E.P. Malignant hyperthermia in a horse anesthetized with halothane. Journal of Veterinary Internal Medicine 19 (2005) 363-366
3. Ardans A.A., Trommershausen-Smith A., Osburn B.I., Mayhew I.G., Trees C., Park M.I., Sawyer M., and Stabenfeldt G.H. Immunotherapy in two foals with combined immunodeficiency, resulting in graft versus host reaction. Journal of the American Veterinary Medical Association 170 (1977) 167-175
4. Bachinger H.P. The influence of peptidyl-prolyl cis-trans isomerase on the in vitro folding of type III collagen. Journal of Biologic Chemistry 262 (1987) 17144-17148
5. Bailey E., Reid R.C., Skow L.C., Mathiason K., Lear T.L., and McGuire T.C. Linkage of the gene for equine combined immunodeficiency disease to microsatellite markers HTG8 and HTG4; synteny and FISH mapping to ECA9. Animal Genetics 28 (1997) 268-273
6. Baird, J.D., Millon, L.V., Dileanis, S., Penedo, M.C., Charlesworth, A., Spirito, F., Meneguzzi, G., 2003. Junctional Epidermolysis Bullosa in Belgian Draft Horses. In: Proceedings of the 49th Annual American Association of Equine Practitioners Convention, New Orleans, LA, pp. 122-125.
7. Baynash A.G., Hosoda K., Giaid A., Richardson J.A., Emoto N., Hammer R.E., and Yanagisawa M. Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons. Cell 79 (1994) 1277-1285
8. Bernoco D., and Bailey E. Frequency of the SCID gene among Arabian horses in the USA. Animal Genetics 29 (1998) 41-42
9. Bowling A.T., Byrns G., and Spier S. Evidence for a single pedigree source of the hyperkalemic periodic paralysis susceptibility gene in quarter horses. Animal Genetics 27 (1996) 279-281
10. Brounts S.H., Rashmir-Raven A.M., and Black S.S. Zonal dermal separation: a distinctive histopathological lesion associated with hyperelastosis cutis in a Quarter Horse. Veterinary Dermatology 12 (2001) 219-224
11. Carr E.A., Spier S.J., Kortz G.D., and Hoffman E.P. Laryngeal and pharyngeal dysfunction in horses homozygous for hyperkalemic periodic paralysis. Journal of the American Veterinary Medical Association 209 (1996) 798-803
12. Clark E.G., Turner A.S., Boysen B.G., and Rouse B.T. Listeriosis in an Arabian foal with combined immunodeficiency. Journal of the American Veterinary Medical Association 172 (1978) 363-366
13. Cox, J.H., 1985. An episodic weakness in four horses associated with intermittent serum hyperkalemia and the similarity of the disease to hyperkalemic periodic paralysis is man. In: Proceedings of the 31st Annual American Association of Equine Practitioners Convention, Toronto, Canada, pp. 383-391.
14. De La Corte F.D., Valberg S.J., MacLeay J.M., and Mickelson J.R. Developmental onset of polysaccharide storage myopathy in 4 Quarter Horse foals. Journal of Veterinary Internal Medicine 16 (2002) 581-587
15. Dranchak P.K., Valberg S.J., Onan G.W., Gallant E.M., Binns M.M., Swinburne J.E., and Mickelson J.R. Exclusion of linkage of the RYR1, CACNA1S, and ATP2A1 genes to recurrent exertional rhabdomyolysis in Thoroughbreds. American Journal Veterinary Research 67 (2006) 1395-1400
16. Firshman A.M., Valberg S.J., Bender J.B., and Finno C.J. Epidemiologic characteristics and management of polysaccharide storage myopathy in Quarter Horses. American Journal of Veterinary Research 64 (2003) 1319-1327
17. Firshman A.M., Baird J.D., and Valberg S.J. Prevalences and clinical signs of polysaccharide storage myopathy and shivers in Belgian draft horses. Journal of the American Veterinary Medical Association 227 (2005) 1958-1964
18. Frame S.R., Harrington D.D., Fessler J., and Frame P.F. Hereditary junctional mechanobullous disease in a foal. Journal of the American Veterinary Medical Association 193 (1988) 1420-1424
19. Hardy M.H., Fisher K.R., Vrablic O.E., Yager J.A., Nimmo-Wilkie J.S., Parker W., and Keeley F.W. An inherited connective tissue disease in the horse. Laboratory Investigation 59 (1988) 253-262
20. Hennig G.E., and Court M.H. Equine postanesthetic myopathy: an update. Compendium of Continuing Education for the Practicing Veterinarian 13 (1991) 1709-1715
21. Hosoda K., Hammer R.E., Richardson J.A., Baynash A.G., Cheung J.C., Giaid A., and Yanagisawa M. Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice. Cell 79 (1994) 1267-1276
22. Hultgren B.D. Ileocolonic aganglionosis in white progeny of overo spotted horses. Journal of the American Veterinary Medical Association 180 (1982) 289-292
23. Hunt L.M., Valberg S.J., Steffenhagen K., and Bender J.B. A retrospective study of myopathies and associated gait abnormalities in 65 Warmblood horses. Journal of Veterinary Internal Medicine 19 (2005) 428-429
24. Johnson G.C., Kohn C.W., Johnson C.W., Garry F., Scott D., and Martin S. Ultrastructure of junctional epidermolysis bullosa in Belgian foals. Journal of Comparative Pathology 99 (1988) 329-336
25. Knottenbelt D.C., Holdstock N., and Madigan J.E. Congenital Abnormalities and Inherited disorders. In: Knottenbelt D.C., Holdstock N., and Madigan J.E. (Eds). Equine Neonatal Medicine and Surgery vol. 1 (2004), Saunders, New York, USA 96-153
26. Kohn C.W., Johnson G.C., Garry F., Johnson C.W., Martin S., and Scott D.W. Mechanobullous disease in two Belgian foals. Equine Veterinary Journal 21 (1989) 297-301
27. Lerner D.J., and McCracken M.D. Hyperelastosis in 2 horses. Journal of Equine Medicine and Surgery 2 (1978) 350-352
28. Lieto, L.D., 2001. Characterization of epitheliogenesis imperfecta in Equus caballus. Ph.D. Thesis Defense, Lexington, Kentucky.
29. Lieto L.D., Swerczek T.W., and Cothran E.G. Equine epitheliogenesis imperfecta in two American saddlebred foals is a lamina lucida defect. Veterinary Pathology 39 (2002) 576-580
30. McCabe L., Griffin L.D., Kinzer A., Chandler M., Beckwith J.B., and McCabe E.R. Overo lethal white foal syndrome: equine model of aganglionic megacolon (Hirschsprung disease). American Journal of Veterinary Research 36 (1990) 336-340
31. McCue M.E., Ribeiro W., and Valberg S.J. Prevalence of polysaccharide storage myopathy in the Quarter horse population. Journal of Veterinary Internal Medicine 20 (2006) 743
32. McCue M.E., Ribeiro W.P., and Valberg S.J. Prevalence of polysaccharide storage myopathy in horses with neuromuscular disorders. Equine Veterinary Journal Supplement 36 (2006) 340-344
33. McCue M.E., Valberg S.J., Miller M.B., Wade C., DiMauro S., Akmand H.O., and Mickelson J.R. Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis. Genomics 91 (2008) 458-466
34. McGuire T.C., and Poppie M.J. Hypogammaglobulinemia and thymic hypoplasia in horses: a primary combined immunodeficiency disorder. Infection and Immunity 8 (1973) 272-277
35. McGuire T.C., Poppie M.J., and Banks K.L. Combined (B- and T-lymphocyte) immunodeficiency: a fatal genetic disease in Arabian foals. Journal of the American Veterinary Medical Association 164 (1974) 70-76
36. Metallinos D.L., Bowling A.T., and Rine J. A missense mutation in the endothelin-B receptor gene is associated with Lethal White Foal Syndrome: an equine version of Hirschsprung disease. Mammalian Genome 9 (1998) 426-431
37. Milenkovic D., Oustry-Vaiman A., Lear T.L., Billault A., Mariat D., Piumi F., Schibler L., Cribiu E., and Guerin G. Cytogenetic localization of 136 genes in the horse: comparative mapping with the human genome. Mammalian Genome 13 (2002) 524-534
38. Milenkovic D., Chaffaux S., Taourit S., and Guerin G. A mutation in the LAMC2 gene causes the Herlitz junctional epidermolysis bullosa (H-JEB) in two French draft horse breeds. Genetics Selection Evolution 35 (2003) 249-256
39. Naylor J.M. Selection of quarter horses affected with hyperkalemic periodic paralysis by show judges. Journal of the American Veterinary Medical Association 204 (1994) 926-928
40. Naylor J.M. Equine hyperkalemic periodic paralysis: review and implications. Canadian Veterinary Journal 35 (1994) 279-285
41. Perryman L.E., McGuire T.C., and Crawford T.B. Maintenance of foals with combined immunodeficiency: causes and control of secondary infections. American Journal of Veterinary Research 39 (1978) 1043-1047
42. Perryman L.E., Bue C.M., Magnuson N.S., Mottironi V.D., Ochs H.S., and Wyatt C.R. Immunologic reconstitution of foals with combined immunodeficiency. Veterinary Immunology and Immunopathology 17 (1987) 495-508
43. Pickar J.G., Spier S.J., Snyder J.R., and Carlsen R.C. Altered ionic permeability in skeletal muscle from horses with hyperkalemic periodic paralysis. American Journal of Physiology 260 (1991) C926-C933
44. Quiroz-Rothe E., Novales M., guilera-Tejero E., and Rivero J.L. Polysaccharide storage myopathy in the M. longissimus lumborum of showjumpers and dressage horses with back pain. Equine Veterinary Journal 34 (2002) 171-176
45. Rashmir-Raven, A.M., Winand, N.J., Read, R.W., Hopper, R.M., Ryan, P.L., Poole, M.H., Erb, H.N., 2004. Equine hyperelastosis cutis update. In: Proceedings of the 50th Annual American Association of Equine Practitioners Convention, Denver, CO, pp. 47-50.
46. Render J.A., Common R.S., Kennedy F.A., Jones M.Z., and Fyfe J.C. Amylopectinosis in fetal and neonatal Quarter Horses. Veterinary Pathology 36 (1999) 157-160
47. Reynolds J.A., Potter G.D., Green L.W., Wu G., Carter G.K., Martin M.T., Peterson T.V., Murray-Gerzik M., Moss G., and Erkert R.S. Genetic-diet interactions in the hyperkalemic periodic paralysis syndrome in Quarter horses fed varying amounts of potassium: III. The relationship between plasma potassium concentration and HYPP Symptoms. Journal of Equine Veterinary Science 18 (1998) 731-735
48. Ribeiro W.P., Valberg S.J., Pagan J.D., and Gustavsson B.E. The effect of varying dietary starch and fat content on serum creatine kinase activity and substrate availability in equine polysaccharide storage myopathy. Journal of Veterinary Internal Medicine 18 (2004) 887-894
49. Rudolph J.A., Spier S.J., Byrns G., Rojas C.V., Bernoco D., and Hoffman E.P. Periodic paralysis in quarter horses: a sodium channel mutation disseminated by selective breeding. Nature Genetics 2 (1992) 144-147
50. Santschi E.M., Purdy A.K., Valberg S.J., Vrotsos P.D., Kaese H., and Mickelson J.R. Endothelin receptor B polymorphism associated with lethal white foal syndrome in horses. Mammalian Genome 9 (1998) 306-309
51. Santschi E.M., Vrotsos P.D., Purdy A.K., and Mickelson J.R. Incidence of the endothelin receptor B mutation that causes lethal white foal syndrome in white-patterned horses. American Journal of Veterinary Research 62 (2001) 97-103
52. Shapiro J., and McEwen B. Mechanobullous disease in a Belgian foal in eastern Ontario. Canadian Veterinary Journal 36 (1995) 572
53. Shin E.K., Perryman L.E., and Meek K. A kinase-negative mutation of DNA-PK(CS) in equine SCID results in defective coding and signal joint formation. Journal of Immunology 158 (1997) 3565-3569
54. Shin E.K., Perryman L.E., and Meek K. Evaluation of a test for identification of Arabian horses heterozygous for the severe combined immunodeficiency trait. Journal of the American Veterinary Medical Association 211 (1997) 1268-1270
55. Spencer, G., Davis, N., 2007. Horse Genome Assembled. National Institute of Health, August 2007. (assessed 04.10.07).
56. Spier S.J., Carlson G.P., Holliday T.A., Cardinet III G.H., and Pickar J.G. Hyperkalemic periodic paralysis in horses. Journal of the American Veterinary Medical Association 197 (1990) 1009-1017
57. Spier, S.J., 2006. Hyperkalemic periodic paralysis: 14 years later. In: Proceedings of the 52nd Annual American Association of Equine Practitioners Convention, San Antonio, TX, pp. 1-5.
58. Spirito F., Charlesworth A., Linder K., Ortonne J.P., Baird J., and Meneguzzi G. Animal models for skin blistering conditions: absence of laminin 5 causes hereditary junctional mechanobullous disease in the Belgian horse. Journal of Investigative Dermatology 119 (2002) 684-691
59. Sprayberry K.A., Madigan J., LeCouteur R.A., and Valentine B.A. Renal failure, laminitis, and colitis following severe rhabdomyolysis in a draft horse-cross with polysaccharide storage myopathy. Canadian Veterinary Journal 39 (1998) 500-503
60. Stannard A.A. Stannard's Illustrated equine dermatology noted. Veterinary Dermatology 11 (2000) 211-215
61. Steinmann B., Bruckner P., and Superti-Furga A. Cyclosporin A slows collagen triple-helix formation in vivo: indirect evidence for a physiologic role of peptidyl-prolyl cis-trans-isomerase. Journal of Biologic Chemistry 266 (1991) 1299-1303
62. Studdert M.J. Primary, severe, combined immunodeficiency disease of Arabian foals. Australian Veterinary Journal 54 (1978) 411-417
63. Tryon R.C., White S.D., Famula T.R., Schultheiss P.C., Hamar D.W., and Bannasch D.L. Inheritance of hereditary equine regional dermal asthenia in Quarter Horses. American Journal of Veterinary Research 66 (2005) 437-442
64. Tryon R.C., White S.D., and Bannasch D.L. Homozygosity mapping approach identifies a missense mutation in equine cyclophilin B (PPIB) associated with HERDA in the American Quarter Horse. Genomics 90 (2007) 93-102
65. University of California Santa Cruz, 2008. UCSC Genome Bioinformatics. University of California Santa Cruz, January 2008. (assessed February 2).
66. Valberg S.J., Cardinet III G.H., Carlson G.P., and DiMauro S. Polysaccharide storage myopathy associated with recurrent exertional rhabdomyolysis in horses. Neuromuscular disorders 2 (1992) 351-359
67. Valberg S.J., MacLeay J.M., and Mickelson J.R. Polysaccharide storage myopathy associated with exertional rhabdomyolysis in horses. Compendium of Continuing Education for the Practicing Veterinarian 19 (1997) 1077-1086
68. Valberg S.J., Ward T.L., Rush B., Kinde H., Hiraragi H., Nahey D., Fyfe J., and Mickelson J.R. Glycogen branching enzyme deficiency in quarter horse foals. Journal of Veterinary Internal Medicine 15 (2001) 572-580
69. Valberg, S.J., 2006. Polysaccharide storage myopathy. In: Proceedings of the 51st Annual American Association of Equine Practitioners Convention, San Antonio, TX, pp. 373-380.
70. Valberg, S.J., Mickelson, J., 2006. Glycogen branching enzyme deficiency. In: Proceedings of the 52nd Annual American Association of Equine Practitioners Convention, San Antonio, TX, pp. 351-353.
71. Valberg, S.J., Mickelson, J.R., 2007. The interplay of genetics, exercise and nutrition in polysaccharide storage myopathy. In: Proceedings of the 25th Annual American College of Veterinary Internal Medicine Conference, Seattle, WA, pp. 163-165.
72. Valentine B.A., Credille K.M., Lavoie J.P., Fatone S., Guard C., Cummings J.F., and Cooper B.J. Severe polysaccharide storage myopathy in Belgian and Percheron draught horses. Equine Veterinary Journal 29 (1997) 220-225
73. Valentine B.A., deLahunta A., Divers T.J., Ducharme N.G., and Orcutt R.S. Clinical and pathologic findings in two draft horses with progressive muscle atrophy, neuromuscular weakness, and abnormal gait characteristic of shivers syndrome. Journal of the American Veterinary Medical Association 215 (1999) 1661-1665
74. Valverde A., Boyd C.J., Dyson D.H., and Pascoe P.J. Prophylactic use of dantrolene associated with prolonged post-anesthetic recumbency in a horse. Journal of the American Veterinary Medical Association 197 (1990) 1051-1053
75. Vonderfecht S.L., Bowling A.T., and Cohen M. Congenital intestinal aganglionosis in white foals. Veterinary Pathology 20 (1983) 65-70
76. Wagner M.L., Valberg S.J., Ames E.G., Bauer M.M., Wiseman J.A., Penedo M.C., Kinde H., Abbitt B., and Mickelson J.R. Allele frequency and likely impact of the glycogen branching enzyme deficiency gene in Quarter Horse and Paint Horse populations. Journal of Veterinary Internal Medicine 20 (2006) 1207-1211
77. Ward T.L., Valberg S.J., Adelson D.L., Abbey C.A., Binns M.M., and Mickelson J.R. Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV. Mammalian Genome 15 (2004) 570-577
78. White S.D., Affolter V.K., Bannasch D.L., Schultheiss P.C., Hamar D.W., Chapman P.L., Naydan D., Spier S.J., Rosychuk R.A., Rees C., Veneklasen G.O., Martin A., Bevier D., Jackson H.A., Bettenay S., Matousek J., Campbell K.L., and Ihrke P.J. Hereditary equine regional dermal asthenia ("hyperelastosis cutis") in 50 horses: clinical, histological, immunohistological and ultrastructural findings. Veterinary Dermatology 15 (2004) 207-217
79. White S.D., Affolter V.K., Schultheiss P.C., Ball B.A., Wessel M.T., Kass P., Molinaro A.M., Bannasch D.L., and Ihrke P.J. Clinical and pathological findings in a HERDA-affected foal for 1.5 years of life. Veterinary Dermatology 18 (2007) 36-40
80. Whitwell K.E. Combined Immunodeficiency in Arab foals. Veterinary Record 103 (1978) 568
81. Wiler, R., Leber, R., Moore, B.B., VanDyk, L.F., Perryman, L.E., Meek, K., 1995. Equine severe combined immunodeficiency: a defect in V(D)J recombination and DNA-dependent protein kinase activity. In: Proceedings of the National Academy of Sciences, vol. 92, pp. 11485-11489.
82. Yang G.C., Croaker D., Zhang A.L., Manglick P., Cartmill T., and Cass D. A dinucleotide mutation in the endothelin-B receptor gene is associated with lethal white foal syndrome (LWFS); a horse variant of Hirschsprung disease. Human Molecular Genetics 7 (1998) 1047-1052
83. Zhou J., Spier S.J., Beech J., and Hoffman E.P. Pathophysiology of sodium channelopathies: correlation of normal/mutant mRNA ratios with clinical phenotype in dominantly inherited periodic paralysis. Human Molecular Genetics 3 (1994) 1599-1603