OMIA 000185-9685 : Chediak-Higashi syndrome in Felis catus

In other species: killer whale , cattle , American mink , Arctic fox

Possibly relevant human trait(s) and/or gene(s) (MIM number): 214500

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Cross-species summary: The mouse homologue of this disorder is the beige coat-colour mutation, which is a mutation in the gene for lysosomal trafficking regulator, Lyst. As its name suggests, this gene is involved in lysosomal functioning - lysosomes being the digestive system of the cell. Thus Chediak-Higashi syndrome is a lysosomal disorder.

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2011 Swanson, W.F., Bateman, H.L., Newsom, J., Conforti, V.A., Herrick, J.R., Lambo, C.A., Haskins, M.E., Lyons, L.A., Kittleson, M.D., Harris, S.P., Fyfe, J.C., Magarey, G.M. :
Propagation of multiple cat hereditary disease models following assisted reproduction with frozen semen and embryos Reproduction, Fertility and Development 24:139-140 (Abstract 55), 2011.
1994 Creel, D.J., Conlee, J.W., Collier, L.L., Prieur, D.J. :
Auditory brainstem responses in cats with Chediak-Higashi syndrome Acta Oto - Laryngologica 114:373-375, 1994. Pubmed reference: 7976308.
1992 Colgan, S.P., Blancquaert, A.M.B., Thrall, M.A., Bruyninckx, W.J. :
Defective In vitro Motility of Polymorphonuclear Leukocytes of Homozygote and Heterozygote Chediak-Higashi Cats Veterinary Immunology and Immunopathology 31:205-227, 1992. Pubmed reference: 1589952.
Colgan, S.P., Gasper, P.W., Thrall, M.A., Boone, T.C., Blancquaert, A.M.B., Bruyninckx, W.J. :
Neutrophil Function in Normal and Chediak-Higashi Syndrome Cats Following Administration of Recombinant Canine Granulocyte Colony-Stimulating Factor Experimental Hematology 20:1229-1234, 1992. Pubmed reference: 1385198.
Cowles, B.E., Meyers, K.M., Wardrop, K.J., Menard, M., Sylvester, D. :
Prolonged Bleeding Time of Chediak-Higashi Cats Corrected by Platelet Transfusion Thrombosis and Haemostasis 67:708-712, 1992. Pubmed reference: 1509414.
1991 Colgan, S.P., Hullthrall, M.A., Gasper, P.W., Gould, D.H., Rose, B.J., Fulton, R., Blanquaert, A.M.B., Bruyninckx, W.J. :
Restoration of Neutrophil and Platelet Function in Feline Chediak-Higashi Syndrome by Bone Marrow Transplantation Bone Marrow Transplantation 7:365-374, 1991. Pubmed reference: 2070146.
Kahraman, M.M., Prieur, D.J. :
Animal Models - Prenatal Diagnosis of Chediak-Higashi Syndrome in the Cat by Evaluation of Cultured Chorionic Cells American Journal of Medical Genetics 40:311-315, 1991. Pubmed reference: 1951435. DOI: 10.1002/ajmg.1320400313.
1990 Kahraman, M.M., Prieur, D.J. :
Chediak-Higashi Syndrome in the Cat - Prenatal Diagnosis by Evaluation of Amniotic Fluid Cells American Journal of Medical Genetics 36:321-327, 1990. Pubmed reference: 2363432. DOI: 10.1002/ajmg.1320360316.
1989 Colgan, S.P. :
Platelet Aggregation and ATP Secretion in Whole Blood of Normal Cats and Cats Homozygous and Heterozygous for Chediak- Higashi Syndrome - Reply Blood Cells 15:600, 1989.
Colgan, S.P., Thrall, M.A.H., Gasper, P.W. :
Platelet Aggregation and ATP Secretion in Whole Blood of Normal Cats and Cats Homozygous and Heterozygous for Chediak- Higashi Syndrome Blood Cells 15:585-595, 1989. Pubmed reference: 2620102.
Kahraman, M.M., Prieur, D.J. :
Chediak-Higashi syndrome: prenatal diagnosis by fetal blood examination in the feline model of the disease. Am J Med Genet 32:325-9, 1989. Pubmed reference: 2543222. DOI: 10.1002/ajmg.1320320310.
1988 Parker, M.T., Collier, L.L., Kier, A.B., Johnson, G.S. :
Oral Mucosa Bleeding Times of Normal Cats and Cats with Chediak-Higashi Syndrome or Hageman Trait (Factor XII Deficiency). Vet Clin Pathol 17:9-12, 1988. Pubmed reference: 15162339.
1987 Hargis, A.M., Prieur, D.J. :
Animal model: renal lesions in cats with Chediak-Higashi-Steinbrinck syndrome. Am J Med Genet 26:169-79, 1987. Pubmed reference: 3812557.
Penner, J.D., Prieur, D.J. :
A comparative study of the lesions in cultured fibroblasts of humans and four species of animals with Chediak-Higashi syndrome. Am J Med Genet 28:445-54, 1987. Pubmed reference: 3425619. DOI: 10.1002/ajmg.1320280222.
Prieur, D.J., Collier, L.L. :
Neutropenia in cats with the Chediak-Higashi syndrome. Can J Vet Res 51:407-8, 1987. Pubmed reference: 3651899.
Wardrop, K.J., Dhein, C.R., Prieur, D.J., Meyers, K.M. :
Evaluation of hepatic and renal function in cats with chediak-higashi syndrome. Vet Clin Pathol 16:40-4, 1987. Pubmed reference: 15221700.
1986 Collier, L.L., King, E.J., Prieur, D.J. :
Age-related changes of the retinal pigment epithelium of cats with Chediak-Higashi syndrome. Invest Ophthalmol Vis Sci 27:702-7, 1986. Pubmed reference: 3700019.
1985 Collier, L.L., King, E.J., Prieur, D.J. :
Tapetal degeneration in cats with Chediak-Higashi syndrome. Curr Eye Res 4:767-73, 1985. Pubmed reference: 4028801.
Collier, L.L., King, E.J., Prieur, D.J. :
Aberrant melanosome development in the retinal pigmented epithelium of cats with Chediak-Higashi syndrome. Exp Eye Res 41:305-11, 1985. Pubmed reference: 4065251.
Hargis, A.M., Prieur, D.J. :
Animal model. Light and electron microscopy of hepatocytes of cats with Chediak-Higashi syndrome. Am J Med Genet 22:659-68, 1985. Pubmed reference: 4073119. DOI: 10.1002/ajmg.1320220403.
van Eerdenburg, F.J., Bouw, J. :
[Chédiak-Higashi syndrome]. Tijdschr Diergeneeskd 110:391-9, 1985. Pubmed reference: 4012747.
1984 Collier, L.L., Prieur, D.J., King, E.J. :
Ocular melanin pigmentation anomalies in cats, cattle, mink, and mice with Chediak-Higashi syndrome: histologic observations. Curr Eye Res 3:1241-51, 1984. Pubmed reference: 6488853.
1982 Creel, D., Collier, L.L., Leventhal, A.G., Conlee, J.W., Prieur, D.J. :
Abnormal retinal projections in cats with the Chediak-Higashi syndrome. Invest Ophthalmol Vis Sci 23:798-801, 1982. Pubmed reference: 7141822.
Meyers, K.M., Hopkins, G., Holmsen, H., Benson, K., Prieur, D.J. :
Ultrastructure of resting and activated storage pool deficient platelets from animals with the Chédiak-Higashi syndrome Am J Pathol 106:364-77, 1982. Pubmed reference: 7199822.
1981 Meyers, K.M., Seachord, C.L., Holmsen, H., Prieur, D.J. :
Evaluation of the platelet storage pool deficiency in the feline counterpart of the Chediak-Higashi syndrome. Am J Hematol 11:241-53, 1981. Pubmed reference: 7315839.
Prieur, D.J., Collier, L.L. :
Inheritance of the Chediak-Higashi syndrome in cats Journal of Heredity 72:175-177, 1981. Pubmed reference: 7276524.
Prieur, D.J., Collier, L.L. :
Morphologic basis of inherited coat-colour dilutions of cats Journal of Heredity 72:178-182, 1981. Pubmed reference: 7276525.
1980 Collier, L.L. :
Investigations of Chediak-Higashi syndrome in four animal species (mink, cattle, cat, mouse) Dissertation Abstracts International 40 B:4161-, 1980.
1979 Collier, L.L., Bryan, G.M., Prieur, D.J. :
Ocular manifestations of the Chediak Higashi syndrome in four species of animals Journal of the American Veterinary Medical Association 175:587-590, 1979. Pubmed reference: 511755.
Prieur, D.J., Collier, L.L., Bryan, G.M., Meyers, K.M. :
The diagnosis of feline Chediak-Higashi syndrome Feline Practice 9:26-32, 1979.
1978 Prieur, D.J., Collier, L.L. :
Animal model of human disease: Chédiak-Higashi syndrome Am J Pathol 90:533-6, 1978. Pubmed reference: 623211.
1977 Krammer, J.W., Davis, W.C., Prieur, D.L. :
The Chediak-Higashi syndrome of cats Laboratory Investigation 36:554-562, 1977. Pubmed reference: 865082.
1975 Krammer, J.W., Davis, W.C., Prieur, D.J., Baxter, J., Norsworthy, G.D. :
An inherited disorder of Persian cats with intracytoplasmic inclusion in neutrophils Journal of the American Veterinary Medical Association 166:1103-1104, 1975. Pubmed reference: 166058.
1968 Padgett, G.A. :
The Chediak-Higashi syndrome Advances in Veterinary Science 12:239-284, 1968.

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  • Created by Frank Nicholas on 06 Sep 2005