OMIA:001501-9796 : Dilute coat color with neurological defects in Equus caballus
In other species: dog
Categories: Nervous system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 214450 (trait) , 160777 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2010
Cross-species summary: The phene is very similar to human Griscelli syndrome, type 1 (GS1).
Species-specific name: Lavender Foal Syndrome, Coat Color Dilution Lethal
Species-specific symbol: LFS
Molecular basis: Brooks et al. (2010) identified a deletion in the MYO5A gene as being responsible for this disorder in Arabian horses. This gene has the interim symbol of LOC100069548.
Clinical features: Brooks et al. (2010): "Affected foals can display an array of neurological signs including tetanic-like seizures, opisthotonus, stiff or paddling leg movements and nystagmus ... [Fanelli, 2005]. Mild leucopenia is sometimes observed [Fanelli, 2005; Page et al., 2006]. These neurologic impairments prevent the foal from standing and nursing normally and, if not lethal on their own, are often cause for euthanasia. In addition to these abnormalities, affected foals possess a characteristic diluted “lavender” coat color. This resulting coat color, variously described as pale gray, pewter, and light chestnut, as well as lavender, has coined the name “Lavender Foal Syndrome” (LFS) [Fanelli, 2005]."
Breed: Arab (Horse) (VBO_0000905).
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MYO5A||myosin VA||Equus caballus||1||NC_009144.3 (139130790..139313816)||MYO5A||Homologene, Ensembl , NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|510||Arab (Horse)||Lavender foal syndrome||MYO5A||deletion, small (<=20)||Naturally occurring variant||EquCab3.0||1||g.139290592del||c.4249del||p.(R1417Afs*13)||XM_023617258.1; XP_023473026.1; published as g.138235715delC; coordinates in the table have been updated to a recent reference genome||2010||20419149||The genomic position in EquCab3.0 was provided by Gracie Zinsmeister, working under the guidance of Professor Ernie Bailey in April 2022|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2023||AbouEl Ela, N.H., El Araby, I.E., Saleh, A.A., Abd El-Fattah, A.H., Hagag, N.M., Brooks, S.A., Radwan, M.A., Kalbfleisch, T. :|
|Evidence for origin of lavender foal syndrome among Egyptian Arabian horses in Egypt. Equine Vet J 55:487-493, 2023. Pubmed reference: 35665534 . DOI: 10.1111/evj.13604.|
|2021||Ayad, A., Almarzook, S., Besseboua, O., Aissanou, S., Piórkowska, K., Musiał, A.D., Stefaniuk-Szmukier, M., Ropka-Molik, K. :|
|Investigation of cerebellar abiotrophy (CA), Lavender Foal Syndrome (LFS), and severe combined immunodeficiency (SCID) variants in a cohort of three MENA region horse breeds. Genes (Basel) 12:1893, 2021. Pubmed reference: 34946842 . DOI: 10.3390/genes12121893.|
|2019||Bugno-Poniewierska, M., Stefaniuk-Szmukier, M., Piestrzyńska-Kajtoch, A.P., Fornal, A., Piórkowska, K., Ropka-Molik, K. :|
|Genetic screening for cerebellar abiotrophy, severe combined immunodeficiency and lavender foal syndrome in Arabian horses in Poland. Vet J 248:71-73, 2019. Pubmed reference: 31113566 . DOI: 10.1016/j.tvjl.2019.04.012.|
|2014||Tarr, C.J., Thompson, P.N., Guthrie, A.J., Harper, C.K. :|
|The carrier prevalence of severe combined immunodeficiency, lavender foal syndrome and cerebellar abiotrophy in Arabian horses in South Africa. Equine Vet J 46:512-4, 2014. Pubmed reference: 24033554 . DOI: 10.1111/evj.12177.|
|2012||Gabreski, N.A., Haase, B., Armstrong, C.D., Distl, O., Brooks, S.A. :|
|Investigation of allele frequencies for Lavender foal syndrome in the horse. Anim Genet 43:650, 2012. Pubmed reference: 22497275 . DOI: 10.1111/j.1365-2052.2011.02305.x.|
|2010||Bellone, RR. :|
|Pleiotropic effects of pigmentation genes in horses. Anim Genet 41 Suppl 2:100-10, 2010. Pubmed reference: 21070283 . DOI: 10.1111/j.1365-2052.2010.02116.x.|
|Brooks, SA., Gabreski, N., Miller, D., Brisbin, A., Brown, HE., Streeter, C., Mezey, J., Cook, D., Antczak, DF. :|
|Whole-genome SNP association in the horse: identification of a deletion in myosin Va responsible for Lavender Foal Syndrome. PLoS Genet 6:e1000909, 2010. Pubmed reference: 20419149 . DOI: 10.1371/journal.pgen.1000909.|
|2006||Page, P., Parker, R., Harper, C., Guthrie, A., Neser, J. :|
|Clinical, clinicopathologic, postmortem examination findings and familial history of 3 Arabians with lavender foal syndrome. J Vet Intern Med 20:1491-4, 2006. Pubmed reference: 17186871 .|
|2005||Fanelli, H.H. :|
|Coat colour dilution lethal ("lavender foal syndrome"): a tetany syndrome of Arabian foals Equine Veterinary Education 17:260-263, 2005.|
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