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Frontonasal Dysplasia (Burmese Head Defect)

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Test Overview:

Test all breeding cats for the ALX1 mutation to know their status (clear, carrier, or affected). Never breed two carriers together because 25% of their kittens will have the fatal defect. It is safer to mate a carrier (one copy) with a clear cat (no copies) to avoid producing affected kittens. Cats with two copies of the mutation (affected) should never be bred. Breeders must share genetic test results openly for responsible breeding decisions.

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

ALX1

Variant Detected:

c.496-508delCTCTCAGGACTG

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Aristaless-Like Homeobox protein 1 (ALX1) variant associated with craniofacial structure and frontonasal dysplasia in Burmese cats. Lyons LA1, Erdman CA2, Grahn RA3, Hamilton MJ4, Carter MJ5, Helps CR6, Alhaddad H7, Gandolfi B8 Dev Biol. 2016 Jan 15;409(2):451-8. doi: 10.1016/j.ydbio.2015.11.015. Epub 2015 Dec 2.

Associated Breed(s):

Burmese,
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