Lavender Foal Syndrome
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Lavender foal syndrome (LFS), also called coat color dilution lethal (CCDL), is an autosomal recessive
genetic disease A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders ...
that affects newborn foals of certain Arabian horse bloodlines. Affected LFS foals have severe neurological abnormalities, cannot stand, and require euthanasia shortly after birth. The popular name originates due to a diluted color of the foal's coat, that in some cases appears to have a purple or lavender hue. However, not all foals possess the lavender coat colour, and colouring can range from silver to light chestnut to a pale pink. Carrier horses have no clinical signs and DNA testing can determine if a horse carries the gene.


Impacted bloodlines

Arabians of "Egyptian" bloodlines have the most documented cases of the disorder, with 10.3% of Egyptian Arabians being carriers, but only 1.8% of non-Egyptian Arabians. Cases reported in peer-reviewed veterinary literature are mostly of foals descended from a number of "Egyptian Arabian" or Egyptian-related bloodline groups, in Australia, a few breeders of Crabbet-related lines have also had foals affected by LFS. Lavender foal syndrome should be considered in any weak newborn Arabian or part-Arabian foal, particularly if it has some degree of "Egyptian" breeding, if the foal cannot stand, if other signs of neurological problems are present, and especially if it has an abnormally light coat color.


History and research

The condition has been recognized since the mid- to late-1950s. Research into the genetics of LFS has been conducted at the
University of California, Davis The University of California, Davis (UC Davis, UCD, or Davis) is a public land-grant research university near Davis, California. Named a Public Ivy, it is the northernmost of the ten campuses of the University of California system. The inst ...
and
Cornell University Cornell University is a private statutory land-grant research university based in Ithaca, New York. It is a member of the Ivy League. Founded in 1865 by Ezra Cornell and Andrew Dickson White, Cornell was founded with the intention to tea ...
in the United States, the
University of Queensland , mottoeng = By means of knowledge and hard work , established = , endowment = A$224.3 million , budget = A$2.1 billion , type = Public research university , chancellor = Peter Varghese , vice_chancellor = Deborah Terry , city = B ...
in Australia, and the
University of Pretoria The University of Pretoria ( af, Universiteit van Pretoria, nso, Yunibesithi ya Pretoria) is a multi-campus public research university in Pretoria, the administrative and de facto capital of South Africa. The university was established in 1908 ...
in South Africa. In November, 2009, Cornell University announced a DNA test has been developed to detect carriers of LFS. Simultaneously, the University of Pretoria also announced they had developed a DNA test. Testing is now available at Cornell, Pretoria, and Queensland, Australia.


Clinical signs

The condition gets its name because most, though not all, affected foals are born with a unique coat color dilution that lightens the tips of the coat hairs, or even the entire hair shaft. The color has variously been described as a silver sheen, a dull lavender, a pale, dull pinkish-gray, or pale chestnut. This dilution differs from
gray Grey (more common in British English) or gray (more common in American English) is an intermediate color between black and white. It is a neutral or achromatic color, meaning literally that it is "without color", because it can be composed o ...
foals because grays are born a dark color and lighten with age. It is also different from roan, because the hair is of a uniform shade, not of intermingled light and dark hairs. Foals with LFS are unable to stand, and sometimes cannot even attain sternal recumbency (to roll from their side to lie upright, resting on the sternum, a precursor position to standing). They may lie with their necks arched back (opisthotonus) and legs stiff (extensor rigidity);
generalised tonic-clonic seizure A generalization is a form of abstraction whereby common properties of specific instances are formulated as general concepts or claims. Generalizations posit the existence of a domain or set of elements, as well as one or more common characte ...
s or seizure activity such as 'paddling' leg movements are also common. Apparent blindness may also be a clinical sign of the disorder, but is not seen in every case. Although they do have a sucking reflex, they cannot stand to nurse, and affected foals are usually euthanized within a few days of birth. There is no cure. In some cases, the
mare A mare is an adult female horse or other equine. In most cases, a mare is a female horse over the age of three, and a filly is a female horse three and younger. In Thoroughbred horse racing, a mare is defined as a female horse more than fo ...
may also have difficulty foaling, though foaling difficulties are not the cause of the condition. In some cases, LFS-affected foals may be larger than usual. LFS is different from neonatal maladjustment syndrome, but may be confused with it if the distinctive coat color is overlooked.


Inheritance

Lavender foal syndrome is thought to be created by an
autosomal An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosom ...
recessive gene at ''
MYO5A Unconventional myosin-Va is a motor protein in charge of the intracellular transport of vesicles, organelles and protein complexes along the actin filaments. In humans it is coded for by the ''MYO5A'' gene. Structure In the presence of cargo ada ...
''. When a horse is
heterozygous Zygosity (the noun, zygote, is from the Greek "yoked," from "yoke") () is the degree to which both copies of a chromosome or gene have the same genetic sequence. In other words, it is the degree of similarity of the alleles in an organism. Mo ...
for the gene, it is a carrier, but healthy and has no clinical signs of the condition. If two carriers are bred together, however, classic
Mendelian genetics Mendelian inheritance (also known as Mendelism) is a type of biological inheritance following the principles originally proposed by Gregor Mendel in 1865 and 1866, re-discovered in 1900 by Hugo de Vries and Carl Correns, and later populari ...
indicate a 25% chance of any given mating producing a
homozygous Zygosity (the noun, zygote, is from the Greek "yoked," from "yoke") () is the degree to which both copies of a chromosome or gene have the same genetic sequence. In other words, it is the degree of similarity of the alleles in an organism. Mo ...
foal, hence affected by the disease. Carrier horses can be bred and produce non-affected foals, as long as they are bred with a non-carrier for the LFS gene. It is hypothesized, though untested, that LFS may be linked to another genetic disease that affects Egyptian-related Arabians, juvenile epilepsy. This theory has been raised because of a small number of horses that have produced both LFS and epileptic foals. LFS is one of six genetic diseases known to affect horses of Arabian bloodlines.


References


Additional information


Goodwin-Camplglio, Lisa. "Genetic Disorders in Arabian Horses" Current Research Projects. 'World Arabian Horse Organization'', September 2008.
*{{cite journal , pmid = 17186871 , volume=20 , title=Clinical, clinicopathologic, postmortem examination findings and familial history of 3 Arabians with lavender foal syndrome , year=2006 , journal=J. Vet. Intern. Med. , pages=1491–4 , last1 = Page , first1 = P , last2 = Parker , first2 = R , last3 = Harper , first3 = C , last4 = Guthrie , first4 = A , last5 = Neser , first5 = J , issue=6 , doi = 10.1111/j.1939-1676.2006.tb00772.x, doi-access = free Arabian and part-Arabian horses Syndromes in horses