Background
Brachycephaly (Frontonasal Dysplasia (FND)) is a heterogeneous group of disorders affecting face and skull development. In the Burmese cat breed, a severe form of the disease is present. The defect is inherited as an autosomal recessive trait, whereat the heterozygous carriers show a mild brachycephaly. This phenotype is highly popular and called Contemporary Burmese. Affected cats however must be euthanised because of severe malformations. The causal mutation for the disease was identified in the Aristaless-Like Homeobox 1 (ALX1) gene.
Test specific information
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Age
Symptoms will develop at a young age. Within a few hours to a maximum of several weeks after birth, the characteristics that go with these genetic effects will become visible.
Throughput
Normally the result can be expected within 15 working days. This turn-around-time starts when both the sample and the fully filled-out and signed submission form have been received.
Location of disease or trait
This disease affects the formation of bone as well as the skeletal development.
Breed dependence
This DNA test is available for the following breeds: Burmese.
Sample type
For this DNA test we accept the following materials: Blood EDTA, Blood Heparin, Swab, Tissue. Please contact PharmaDNA if you wish to submit other material as listed.
Result
An animal can be free and has in that situation two healthy alleles. When used in breeding this animal will not become ill due to the disease. It cannot spread the disease in the population.An animal can be carrier and has in that situation one healthy and one disease allele. When used in breeding 50 percent of the offspring will receive the disease allele. Carriers will not become ill.An animal can be affected and has in that situation two disease alleles. When used in breeding all offspring will also receive the disease allele. Affected will become ill.
Inheritance
This genetic factor is inherited in an autosomal, dominant, mode. This means, that the individual can be free of the mutation (homozygote normal), affected (homozygous affected) or carrier (heterozygous affected). Both carriers and affected individuals will show symptoms of the mutation.
Severity of Disease
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