OMIA 001678-9796 : Epidermolysis bullosa, junctionalis, LAMC2-related in Equus caballus

In other species: sheep , 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: 2002

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.

Molecular basis: By cloning and sequencing a very likely candidate gene (based on the disorder being associated with "the absent expression of the gamma2 chain of laminin 5"), Spirito et al. (2002) identified a likely causal mutation as a single bp insertion in the equine LAMC2 gene, namely "1368insC [which] results in a downstream premature termination codon and is predicted to cause absent expression of the laminin gamma2 polypeptide".

The first report of this disorder in Italian horses involved the same mutation (1368insC in LAMC2) as apparently causal in an Italian draft horse (Cappelli et al., 2015).

Breeds: Belgian, Italian draft horse, Trait Breton, Trait Comtois.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
LAMC2 laminin, gamma 2 Equus caballus 5 NC_009148.3 (17461884..17513382) LAMC2 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
Belgian Italian draft horse Trait Breton Trait Comtois Epidermolysis bullosa, junctionalis, LAMC2-related LAMC2 insertion, small (<=20) c.1368insC 2002 12230513

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.
2015 Cappelli, K., Brachelente, C., Passamonti, F., Flati, A., Silvestrelli, M., Capomaccio, S. :
First report of junctional epidermolysis bullosa (JEB) in the Italian draft horse. BMC Vet Res 11:55, 2015. Pubmed reference: 25889423. DOI: 10.1186/s12917-015-0374-0.
2003 Baird ,J.D., Millon, L.V., Dileanis, S., Penedo, M.C.T., Charlesworth, A., Spirito, F., Meneguzzi, G. :
Junctional Epidermolysis Bullosa in Belgian Draft horses Proc Am Assoc Equine Practnr 49:122-126, 2003.
Milenkovic, D., Chaffaux, S., Taourit, S., Guerin, G. :
A mutation in the LAMC2 gene causes the Herlitz junctional epidermolysis bullosa (H-JEB) in two French draft horse breeds Genetics Selection Evolution 35:249-56, 2003. Pubmed reference: 12633536. DOI: 10.1051/gse:2003007.
2002 Spirito, F., Charlesworth, A., Linder, K., Ortonne, JP., Baird, J., Meneguzzi, G. :
Animal models for skin blistering conditions: absence of laminin 5 causes hereditary junctional mechanobullous disease in the Belgian horse. J Invest Dermatol 119:684-91, 2002. Pubmed reference: 12230513. DOI: 10.1046/j.1523-1747.2002.01852.x.
1995 Shapiro, J., McEwen, B. :
Mechanobullous disease in a Belgian foal in eastern ontario Canadian Veterinary Journal 36:572, 1995.
1989 Kohn, C.W., Johnson, G.C., Garry, F., Johnson, C.W., Martin, S., Scott, D.W. :
Mechanobullous disease in two Belgian foals Equine Veterinary Journal 21:297-301, 1989. Pubmed reference: 2767032.
1988 Frame, S.R., Harrington, D.D., Fessler, J., Frame, P.F. :
Hereditary junctional mechanobullous disease in a foal Journal of the American Veterinary Medical Association 193:1420-1424, 1988. Pubmed reference: 3209456.
Johnson, G.C., Kohn, C.W., Johnson, C.W., Garry, F., Scott, D., Martin, S. :
Ultrastructure of junctional epidermolysis bullosa in Belgian foals Journal of Comparative Pathology 98:329-336, 1988.

Edit History


  • Created by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 22 Jun 2012
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  • Changed by Frank Nicholas on 13 Apr 2016