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Frontonasal Dysplasia (Burmese Head Defect)

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Test Overview:

A genetic mutation in Burmese cats affects the development of the head and facial areas of the foetus during pregnancy. The craniofacial malformations caused by the condition are immediately apparent from birth and are severe, eg malformation of the lower jaw and nostrils, degeneration of the eyes and ears and protrusion of the brain. Affected kittens can be born alive and require euthanasia as the condition is incompatible with normal or prolonged life.

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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