Burmese Head Defect
Code: K608
Short description
In Burmese cats, a form of brachycephaly is known as Burmese Head Defect (BHD).
General information
In Burmese cats, a form of brachycephaly is known as Burmese Head Defect (BHD). BHD falls under the broader category of frontonasal dysplasia (FND), a group of disorders affecting face and skull development. The causal mutation for the disease was identified in the Aristaless-Like Homeobox 1 (ALX1) gene. The mutation inherits in a co-dominant manner.
Carriers for the mutation display a milder form of brachycephaly (shortened skull) than affected cats, with short, flat muzzles. As this phenotype has become a distinctive feature of the “contemporary” or American Burmese, the Burmese Head Defect mutation is common among these cats.
Specifications
| Breeds | |
|---|---|
| Gene | ALX1 |
| Chromosome | B4 |
| Mutation | c.496delCTCTCAGGACTG |
| Organ | Skeletal system |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Co-Dominant |
| Also known as | Frontonasal dysplasia (FND) |
Clinical features
Cats affected with BHD show improper development and subsequent malformation of the skull and facial features. Kittens with BHD may be stillborn or born live, but kittens born live cannot survive for long, and are typically euthanized on humane grounds.
Heterozygous carriers show a mild brachycephaly, with a round, wide head and a flattened muzzle.
References
Pubmed ID: 26610632
Year published: 2016
Omia ID: 2717
Omia variant ID:
Turnaround information
- 15 working days