OMIA:000341-9913 : Epidermolysis bullosa, dystrophic in Bos taurus (taurine cattle) |
In other species: dog , domestic cat , goat , sheep
Categories: Integument (skin) phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 131705 (trait) , 131750 (trait) , 131950 (trait) , 132000 (trait) , 226500 (trait) , 226600 (trait)
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2012
Cross-species summary: Blisters on the outer layer of skin.
Mapping: Menoud et al. (2012) "localized the causative mutation to an 18 Mb interval on chromosome 22 by homozygosity mapping".
Molecular basis: In a sign of the times, Menoud et al. (2012) needed only three affected Rotes Höhenvieh calves to identify the causative mutation of this disorder as being a "SNP in the bovine COL7A1 exon 49 (c.4756C>T) . . . which causes a premature stop codon which leads to a truncated protein representing a complete loss of COL7A1 function (p.R1586*)" Independently of the above discovery, Pausch et al. (2016) discovered exactly the same likely causal variant (now recognised to be BTA22:g.51873390C>T [UMD3.1]; c.4762C>T; p.Arg1588X) in the Vorderwald breed, for which there is no documented admixture with the Rotes Höhenvieh breed, leading them to conclude "that deleterious alleles may segregate across cattle breeds without any documented admixture".
Breeds:
Rotes Höhenvieh, Germany (Cattle) (VBO_0004642),
Vorderwälder, Germany (Cattle) (VBO_0004645).
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 |
|---|---|---|---|---|---|---|
| COL7A1 | collagen type VII alpha 1 | Bos taurus | 22 | NC_037349.1 (51287420..51317719) | COL7A1 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 292 | Rotes Höhenvieh, Germany (Cattle) Vorderwälder, Germany (Cattle) | Epidermolysis bullosa, dystrophic | COL7A1 | nonsense (stop-gain) | Naturally occurring variant | ARS-UCD1.2 | 22 | g.51301158C>T | c.4762C>T | p.(R1588*) | rs876174537 | 2012 | 22715415 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; Breed and some variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170) |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2016). OMIA:000341-9913: 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.
| 2016 | Pausch, H., Ammermüller, S., Wurmser, C., Hamann, H., Tetens, J., Drögemüller, C., Fries, R. : |
| A nonsense mutation in the COL7A1 gene causes epidermolysis bullosa in Vorderwald cattle. BMC Genet 17:149, 2016. Pubmed reference: 27905875. DOI: 10.1186/s12863-016-0458-2. | |
| 2012 | Menoud, A., Welle, M., Tetens, J., Lichtner, P., Drögemüller, C. : |
| A COL7A1 Mutation Causes Dystrophic Epidermolysis Bullosa in Rotes Höhenvieh Cattle. PLoS One 7:e38823, 2012. Pubmed reference: 22715415. DOI: 10.1371/journal.pone.0038823. |
Edit History
- Created by Frank Nicholas on 22 Jun 2012
- Changed by Frank Nicholas on 06 Dec 2016