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)s (MIM numbers): 226700 (trait) , 226650 (trait) , 150292 (gene)

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: Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes. [ Orphanet:79404 ]

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

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.

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
682 Hereford Epidermolysis bullosa, junctionalis, LAMC2 LAMC2 deletion, gross (>20) Naturally occurring variant 16 "2.4 kb deletion encompassing the first exon of the LAMC2 gene" 2015 25888738

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.
2021 Caivio-Nasner, S., López-Herrera, A., González-Herrera, L.G., Rincón, J.C. :
Frequency of genotypic markers for genetic disorders, colour, polledness, and major genes in Blanco Orejinegro cattle. Trop Anim Health Prod 53:546, 2021. Pubmed reference: 34779908. DOI: 10.1007/s11250-021-02990-y.
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