OMIA 001677-9796 : Epidermolysis bullosa, junctionalis, LAMA3-related in Equus caballus

In other species: dog , cattle

Possibly relevant human trait(s) and/or gene(s) (MIM number): 226700

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2009

Cross-species summary: Blisters in and around the mouth and on the limbs, leading in the latter case to separation of the hoof from the corium (dermis), resulting in inability to stand.

Species-specific name: Also known as Epitheliogenesis imperfecta.

Molecular basis: By sequence analysis of three strong comparative candidate genes, Graves et al. (2009) identified a causal mutation as a "6589-bp deletion spanning exons 24-27 . . . in the LAMA3 gene in American Saddlebred foals".

Prevalence: Graves et al. (2009) reported that "nine of 175 randomly selected American Saddlebred foals from the 2007 foal crop were found to be carriers of the [deletion] mutation (frequency of 0.026)".

Breed: American Saddlebred.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
LAMA3 laminin, alpha 3 Equus caballus 8 NC_009151.3 (48410496..48708623) LAMA3 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
American Saddlebred Epidermolysis bullosa, junctionalis, LAMA3-related LAMA3 deletion, gross (>20) "6589-bp deletion spanning exons 24-27 . . . in the LAMA3 gene in American Saddlebred foals" 2009 19016681

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.
2009 Graves, K.T., Henney, P.J., Ennis, R.B. :
Partial deletion of the LAMA3 gene is responsible for hereditary junctional epidermolysis bullosa in the American Saddlebred Horse. Anim Genet 40:35-41, 2009. Pubmed reference: 19016681. DOI: 10.1111/j.1365-2052.2008.01795.x.
2005 Milenkovic, D., Mata, X., Chadi, S., Guérin, G. :
cDNA sequence of the horse (Equus caballus) LAMA3 gene and characterization of two intronic SNP markers. DNA Seq 16:468-73, 2005. Pubmed reference: 16287627. DOI: 10.1080/10425170500287674.
2003 Lieto, LD., Cothran, EG. :
The epitheliogenesis imperfecta locus maps to equine chromosome 8 in American Saddlebred horses. Cytogenet Genome Res 102:207-10, 2003. Pubmed reference: 14970704. DOI: 10.1159/000075750.
2002 Lieto, L.D., Swerczek, T.W., Cothran, E.G. :
Equine epitheliogenesis imperfecta in two American Saddlebred foals is a lamina lucida defect Veterinary Pathology 39:576-580, 2002. Pubmed reference: 12243468.
1976 Crowell, W.A., Stephenson, C., Gosser, H.S. :
Epitheliogenesis imperfecta in a foal Journal of the American Veterinary Medical Association 168:56-58, 1976. Pubmed reference: 1245446.

Edit History


  • Created by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Carrie Finno on 11 Dec 2013