OMIA 001501-9796 : Dilute coat color with neurological defects in Equus caballus

In other species: dog

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 214450 (trait) , 160777 (gene)

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.

Breed: Arabian.

Associated gene:

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

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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.

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
Arabian Lavender foal syndrome MYO5A deletion, small (<=20) Naturally occurring variant 1 g.138235715del g.138235715delC 2010 20419149

References


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.
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.

Edit History


  • Created by Frank Nicholas on 12 Sep 2010
  • Changed by Frank Nicholas on 11 Sep 2011
  • Changed by Frank Nicholas on 08 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Tosso Leeb on 15 Sep 2021