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P854

Lavender Foal Syndrome (LFS, also called Lethal Coat Colour Dilution) is a genetic disorder that is most commonly seen in Arabian horses.

10 días laborables

Especificaciones

Breeds

Gene

Organ

specimen

Pelo, sangre EDTA, sangre Heparina, Semen, Tejido

Mode of Inheritance

Chromosome

Also known as

Year Published

Información específica de la prueba

Lavender Foal Syndrome (LFS, also called Lethal Coat Colour Dilution) is a genetic disorder that is most commonly seen in Arabian horses. It is caused by an autosomal recessive mutation in the Myosin VA (MYO5A) gene. This gene is responsible for producing a protein that plays a key role in intracellular transport, particularly within nerve cells. A mutation in this gene affects proper neurological development and function, leading to the symptoms associated with LFS. The disorder is lethal and animals with 2 copies of the mutation typically are stillborn or die shortly after birth.

Características clínicas

Foals that are affected for LFS are characterized by a distinctive coat colour (lavender, pale pink, or silver) at birth. They are not able to stand or sit upright and may have a backward-arched neck. This may be caused by abnormal stretching of joints in the limbs, neck and back. In addition, seizures, stiff paddling leg movements and involuntary eye movement (nystagmus) are other observed symptoms due to affected neurological development.

Foals with LFS cannot be treated and will die shortly after birth or have to be euthanized on humane grounds.

Información adicional

Referencias

Pubmed ID: 20419149

Omia ID: 1501

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