OMIA 001501-9796 : Lavender foal syndrome in Equus caballus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 214450

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2010

Species-specific name: 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.

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Arabian Lavender foal syndrome MYO5A deletion, small (<=20) 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.
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