OMIA 000185-9685 : Chediak-Higashi syndrome in Felis catus |
[IT thanks DVM student Michelle Kim, who provided the basis of this contribution in April 2022.]
Pathology: Histopathological examination of skin, hair and eyes showed clumping of melanin granules which was the basis of partial albinism (Prieur and Collier, 1978). Microscopic examination revealed granular clumping and enlargement of polymorphic leukocytes, resulting in defective chemotactic and phagocytic capabilities (due to the delayed delivery of lysosomal contents (Prieur and Collier, 1978). Platelet abnormalities were associated with the absence secretable serotonin, ADPand granules leading to bleeding diathesis (Cowles et al., 1992). Ultrastructural examination of retinal pigmented epithelium showed abnormalities in melanosomes and pre-melanosomes associated with tapetal degeneration and altered retinal fibre projections to the lateral geniculate body (Creel et al., 1982).
[IT thanks DVM student Michelle Kim, who provided the basis of this contribution in April 2022.]
Breed: Persian. Associated gene:Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
LYST | lysosomal trafficking regulator | Felis catus | D2 | NC_058378.1 (12929413..13129725) | LYST | Homologene, Ensembl, NCBI gene |
Variants
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1147 | Persian | Chediak-Higashi disease | LYST | repeat variation | Naturally occurring variant | Felis_catus_9.0 | D2 | g.13289500_13308861dup | c.8347-2422_9548+1749dup | Buckley et al. (2020): "a tandem segmental duplication encompassing exons 30 through to 38 (NM_001290242.1:c.8347-2422_9548 + 1749dup) (NC_018733.3:g.13289500_13308861dup)" | 2020 | 31919397 |
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.
2020 | Buckley, R.M., Grahn, R.A., Gandolfi, B., Herrick, J.R., Kittleson, M.D., Bateman, H.L., Newsom, J., Swanson, W.F., Prieur, D.J., Lyons, L.A. : | |
Assisted reproduction mediated resurrection of a feline model for Chediak-Higashi syndrome caused by a large duplication in LYST. Sci Rep 10:64, 2020. Pubmed reference: 31919397. DOI: 10.1038/s41598-019-56896-9. | ||
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. : | ||
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., 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. | ||
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. | ||
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. : | |
Aberrant melanosome development in the retinal pigmented epithelium of cats with Chediak-Higashi syndrome. Exp Eye Res 41:305-11, 1985. Pubmed reference: 4065251. | ||
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. | ||
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. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 27 Jan 2020
- Changed by Imke Tammen2 on 23 May 2022