Lavender Foal Syndrome (LFS)

Summary

Lavender Foal Syndrome (LFS) is an inherited condition that causes seizures and the death of foals soon after birth. Symptoms include opisthotonus (a spasm of the muscles causing backward arching of the head, neck and spine) and stiff or paddling leg movements. These foals are unable to stand and nurse and are typically euthanized. There is no effective treatment.

Affected foals have a diluted coat color referred to as "lavender."

Date of Last Update: 08/02/2016

Results

Understanding the Results

Results of the genetic test for LFS are presented as shown below.

Lavender Foal Syndrome (LFS)
N/N	Clear	This horse tested negative for Lf.
N/Lf	Carrier	Both the normal and mutant alleles are present. This horse is positive for the Lf mutation but will not develop symptoms.
Lf/Lf	Affected	This horse carries two copies of the Lf mutation and will die of the disease.

Disease Name and Genes

Lavender Foal Syndrome (LFS) results from a frameshift mutation in the myosin Va (MYO5A) gene. A single-base deletion in exon 30 changes the reading frame and results in a premature stop codon.

Inheritance

Lavender Foal Syndrome (LFS) results from a frameshift mutation in the myosin Va (MYO5A) gene. A single-base deletion in exon 30 changes the reading frame and results in a premature stop codon.

Lavender Foal Syndrome (LFS) results from a frameshift mutation in the myosin Va (MYO5A) gene. A single-base deletion in exon 30 changes the reading frame and results in a premature stop codon.

If a carrier of the recessive allele (N/Lf) is bred to a normal horse (N/N), each foal has a 50% chance of having two copies of the normal allele (N/N) and a 50% chance of being a carrier (N/Lf).

Citations

Brooks SA et al. (2010). "Whole-genome SNP association in the horse: identification of a deletion in myosin Va responsible for Lavender Foal Syndrome." PLoS Genet.. 6(4):e1000909. PMID: 20419149.

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