OMIA 001578-9796 : Foal immunodeficiency syndrome in the Fell and Dales Pony in Equus caballus

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2011

Species-specific symbol: FIS

Molecular basis: Starting with some linkage mapping, and using the full power of current genomics tools, Fox-Clipsham et al. (2011) identified the causal mutation for this disorder as a missense mutation in the gene encoding solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), on chromosome ECA26. This equine gene has the interim symbol of LOC100052070.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SLC5A3 solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 Equus caballus 26 NC_009169.3 (31869233..31904230) SLC5A3 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.

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
Dales Pony Fell Pony Foal immunodeficiency syndrome in the Fell and Dales Pony SLC5A3 missense EquCab2 26 g.30660224G>T c.1337G>T p.P446L 2011 21750681 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

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.
2011 Bailey, E. :
Screening for foal immunodeficiency syndrome. Vet Rec 169:653-4, 2011. Pubmed reference: 22184351. DOI: 10.1136/vr.d8118.
Fox-Clipsham, LY., Carter, SD., Goodhead, I., Hall, N., Knottenbelt, DC., May, PD., Ollier, WE., Swinburne, JE. :
Identification of a mutation associated with fatal foal immunodeficiency syndrome in the fell and dales pony. PLoS Genet 7:e1002133, 2011. Pubmed reference: 21750681. DOI: 10.1371/journal.pgen.1002133.
2009 Fox-Clipsham, L., Swinburne, JE., Papoula-Pereira, RI., Blunden, AS., Malalana, F., Knottenbelt, DC., Carter, SD. :
Immunodeficiency/anaemia syndrome in a Dales pony. Vet Rec 165:289-90, 2009. Pubmed reference: 19734561.
2006 Butler, CM., Westermann, CM., Koeman, JP., Sloet van Oldruitenborgh-Oosterbaan, MM. :
The Fell pony immunodeficiency syndrome also occurs in the Netherlands: a review and six cases. Tijdschr Diergeneeskd 131:114-8, 2006. Pubmed reference: 16514970.
Gardner, RB., Hart, KA., Stokol, T., Divers, TJ., Flaminio, MJ. :
Fell Pony syndrome in a pony in North America. J Vet Intern Med 20:198-203, 2006. Pubmed reference: 16496942.
Jelinek, F., Faldyna, M., Jasurkova-Mikutova, G. :
Severe combined immunodeficiency in a Fell pony foal. J Vet Med A Physiol Pathol Clin Med 53:69-73, 2006. Pubmed reference: 16466458. DOI: 10.1111/j.1439-0442.2006.00779.x.
2005 Thomas, GW., Bell, SC., Carter, SD. :
Immunoglobulin and peripheral B-lymphocyte concentrations in Fell pony foal syndrome. Equine Vet J 37:48-52, 2005. Pubmed reference: 15651734.
2003 Thomas, G.W, :
Immunodeficiency in Fell Ponies PhD Thesis, University of Liverpool :, 2003.
Thomas, GW., Bell, SC., Phythian, C., Taylor, P., Knottenbelt, DC., Carter, SD. :
Aid to the antemortem diagnosis of Fell pony foal syndrome by the analysis of B lymphocytes. Vet Rec 152:618-21, 2003. Pubmed reference: 12790165.
2001 Bell, S.C., Savidge, C., Taylor, P., Knottenbelt, D.C., Carter, S.D. :
An immunodeficiency in Fell ponies: a preliminary study into cellular responses Equine Veterinary Journal 33:687-692, 2001. Pubmed reference: 11770991.
2000 Dixon, JB., Savage, M., Wattret, A., Taylor, P., Ross, G., Carter, SD., Kelly, DF., Haywood, S., Phythian, C., Macintyre, AR., Bell, SC., Knottenbelt, DC., Green, JR. :
Discriminant and multiple regression analysis of anemia and opportunistic infection in Fell pony foals. Vet Clin Pathol 29:84-86, 2000. Pubmed reference: 12070803.
1998 Scholes, SF., Holliman, A., May, PD., Holmes, MA. :
A syndrome of anaemia, immunodeficiency and peripheral ganglionopathy in Fell pony foals. Vet Rec 142:128-34, 1998. Pubmed reference: 9507645.

Edit History


  • Created by Frank Nicholas on 15 Jul 2011
  • Changed by Frank Nicholas on 11 Sep 2011
  • Changed by Frank Nicholas on 08 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011