OMIA 001678-9913 : Epidermolysis bullosa, junctionalis, LAMC2-related in Bos taurus

In other species: horse , sheep

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: 2015

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: "2.4 kb deletion encompassing the first exon of the LAMC2 gene" (Murgiano et al., 2015)

Breed: Hereford.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
LAMC2 laminin subunit gamma 2 Bos taurus 16 NC_037343.1 (64223593..64291348) LAMC2 Homologene, Ensembl, NCBI gene

Variants

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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.

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
Hereford Epidermolysis bullosa, junctionalis, LAMC2 LAMC2 deletion, gross (>20) "2.4 kb deletion encompassing the first exon of the LAMC2 gene" 2015 25888738

Reference


2015 Murgiano, L., Wiedemar, N., Jagannathan, V., Isling, L.K., Drögemüller, C., Agerholm, J.S. :
Epidermolysis bullosa in Danish Hereford calves is caused by a deletion in LAMC2 gene. BMC Vet Res 11:23, 2015. Pubmed reference: 25888738. DOI: 10.1186/s12917-015-0334-8.

Edit History


  • Created by Frank Nicholas on 19 Mar 2015
  • Changed by Frank Nicholas on 22 Apr 2015