--- license: permission_granted topic_id: companion_breed_health_persian_omia364_cat category: companion-breed-health title: "Persian — Chediak-Higashi syndrome (hereditary; OMIA-verified breed predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-02 from local OMIA database dump." source_file: pdf-raw/breed-health/persian_omia364_364.txt date_parsed: 2026-08-02 tokens_estimated: 763 verification: method: substring_match claims: 7 passed: 7 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_persian_omia364_cat/01_companion_breed_health_persian_omia364_cat.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Persian — Chediak-Higashi syndrome (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA000185/9685/" retrieved: "2026-08-02" ref: "OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70" doc_type: "academic animal-genetics database (breed-specific disorder entries)" needs_review: false
Persian — Chediak-Higashi syndrome (hereditary; OMIA-verified breed predisposition)
Source: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.
Claims
Breed: Persian (Cat)Disorder:Mode of inheritance: Autosomal recessiveSummary: Cats with Chediak-Higashi syndrome (CHS) have a very characteristic smoke-blue coat and yellow eyes, with concurrent bleeding disorders and impaired vision. The first report of this disorder in cats was by Krammer 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.Clin feat: Cats with CHS develop oculocutaneous albinism, resulting in smoke-blue coat colour and yellow eyes and ocular abnormalities such as photophobia, cataracts (Krammer et al., 1977) and rotatory nystagmus (Collier et al., 1979). They also develop bleeding diathesis, commonly presented as easy bruising, epistaxis, gingival bleeding, prolonged bleeding, and in severe cases, life-threatening haemorrhages (Cowles et al., 1992). Auditory brainstem response test shows abnormalities in the brainstem auditory pathway although its implications on the cats’ hearing is unknown (Creel et al., 1994). CHS cats are also more prone to bacterial infections (Prieur et al., 1981) due to their impaired immune system. [IT thanks DVM student Michelle Kim, who provided the basis of this contribution in April 2022.]Defect: yesPathology: 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, ADP and 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.]
Associated gene(s)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- Gene: Entrez Gene ID 389714547 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: 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) [omia.variant:1147]. PCR genotyping of the produced offspring demonstrated three individuals inhe…
Evidence (references)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- 1977. The Chediak-Higashi syndrome of cats. Laboratory Investigation — PubMed:PMID865082 — OMIA Phene_Article / Article
- 1980. Investigations of Chediak-Higashi syndrome in four animal species (mink, cattle, cat, mouse). Dissertation Abstracts International — OMIA Phene_Article / Article
- 1975. An inherited disorder of Persian cats with intracytoplasmic inclusion in neutrophils. Journal of the American Veterinary Medical Association — PubMed:PMID166058 — OMIA Phene_Article / Article
- 1979. Ocular manifestations of the Chediak Higashi syndrome in four species of animals. J Am Vet Med Assoc — PubMed:PMID511755 — OMIA Phene_Article / Article
- 1968. The Chediak-Higashi syndrome. Advances in Veterinary Science — OMIA Phene_Article / Article
- 1989. Platelet aggregation and ATP secretion in whole blood of normal cats and cats homozygous and heterozygous for Chediak- Higashi syndrome - Reply. Blood Cells — OMIA Phene_Article / Article
- 1989. Platelet aggregation and ATP secretion in whole blood of normal cats and cats homozygous and heterozygous for Chediak-Higashi syndrome. Blood Cells — PubMed:PMID2620102 — OMIA Phene_Article / Article
- 1990. Chediak-Higashi syndrome in the cat: Prenatal diagnosis by evaluation of amniotic fluid cells. American Journal of Medical Genetics — PubMed:PMID2363432 | DOI:10.1002/ajmg.1320360316 — OMIA Phene_Article / Article
- 1991. Prenatal diagnosis of Chediak-Higashi syndrome in the cat by evaluation of cultured chorionic cells. American Journal of Medical Genetics — PubMed:PMID1951435 | DOI:10.1002/ajmg.1320400313 — OMIA Phene_Article / Article
- 1991. Restoration of neutrophil and platelet function in feline Chediak-Higashi syndrome by bone marrow transplantation. Bone Marrow Transplant — PubMed:PMID2070146 — OMIA Phene_Article / Article
- 1992. Prolonged bleeding time of Chediak-Higashi cats corrected by platelet transfusion. Thromb Haemost — PubMed:PMID1509414 — OMIA Phene_Article / Article
- 1992. Defective in vitro motility of polymorphonuclear leukocytes of homozygote and heterozygote Chediak-Higashi cats. Vet Immunol Immunopathol — PubMed:PMID1589952 | DOI:10.1016/0165-2427(92)90010-n — OMIA Phene_Article / Article
- (24 additional references in OMIA)
Comparative medicine (human OMIM)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- OMIM:214500 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:606897 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."