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

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2020

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.

Species-specific description: The first report of this disorder in cats was by Kramer et al. (1975, 1977), and two research colonies were created. As summarised by Buckley et al. (2020), "after nearly 20 years of research, the colonies at Colorado State and Washington State University could no longer be maintained and were lost to the research community. Fortunately, during the dissolution of the former CHS colony, an intact male (Smokey) was donated to the University of California, Davis. Smokey, a 16-year-old carrier for CHS, represented the only viable representative of the cat biomedical model for CHS. Therefore, the feline model for CHS provided an opportunity to apply newly advanced assisted reproductive techniques to resurrect a previously extinct feline disease model". This technology was utilised by Buckley et al. (2020), with the result that "semen from the viable CHS carrier of the original CHS colony, was successfully cryopreserved and used for artificial insemination (AI) to produce potential CHS carrier offspring."

Molecular basis: By whole-genome sequencing fibroblast cell lines that had been maintained from one of the original colony affected cats, Buckley et al. (2020) " identified a candidate causal variant as a ~20 kb tandem duplication within LYST, spanning exons 30 through to 38 (NM_001290242.1:c.8347-2422_9548 + 1749dup). PCR genotyping of the produced offspring demonstrated three individuals inherited the mutant allele from the CHS carrier male."

Breed: Persian.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
LYST lysosomal trafficking regulator Felis catus D2 NC_018733.3 (13199206..13347218) LYST Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Persian Chediak-Higashi disease LYST repeat variation Felis_catus_9.0 D2 g.13,289,500_13,308,861dup 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. :
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. :
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. :
Morphologic basis of inherited coat-colour dilutions of cats Journal of Heredity 72:178-182, 1981. Pubmed reference: 7276525.
Prieur, D.J., Collier, L.L. :
Inheritance of the Chediak-Higashi syndrome in cats Journal of Heredity 72:175-177, 1981. Pubmed reference: 7276524.
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
  • Changed by Frank Nicholas on 27 Jan 2020