OMIA:001677-9796 : Epidermolysis bullosa, junctionalis, LAMA3-related in Equus caballus
In other species: dog , cattle
Categories: Integument (skin) phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 226700 (trait) , 600805 (gene) , 245660 (trait) , 226650 (trait)
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: 2009
Cross-species summary: Congenital blistering skin disease characterized by separation of the lamina lucida of the basement membrane zone. Blisters often occur in and around the mouth and on the limbs, leading in the latter case to separation of the hoof or nail from the corium (dermis).
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 Saddle Horse (Horse) (VBO_0000898).
|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|
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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|
|658||American Saddle Horse (Horse)||Epidermolysis bullosa, junctionalis, LAMA3-related||LAMA3||deletion, gross (>20)||Naturally occurring variant||8||"6589-bp deletion spanning exons 24-27 . . . in the LAMA3 gene in American Saddlebred foals"||2009||19016681|
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 .|
- Created by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Carrie Finno on 11 Dec 2013