OMIA:001678-9913 : Epidermolysis bullosa, junctionalis, LAMC2-related in Bos taurus (taurine cattle) |
In other species: horse , sheep
Categories: Integument (skin) phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 226700 (trait) , 226650 (trait) , 150292 (gene)
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: 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 (Cattle) (VBO_0000232).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| LAMC2 | laminin subunit gamma 2 | Bos taurus | 16 | NC_037343.1 (64214064..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.
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 | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 682 | Hereford (Cattle) | 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 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2015). OMIA:001678-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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