OMIA 000341-9913 : Epidermolysis bullosa, dystrophic in Bos taurus

In other species: sheep , dog , domestic cat , goat

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 131705 , 131750 , 131950 , 132000 , 226500 , 226600

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: 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, Vorderwalder.

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 (51287234..51317718) COL7A1 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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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
Rotes Höhenvieh Vorderwalder Epidermolysis bullosa, dystrophic COL7A1 nonsense (stop-gain) UMD 3.1 22 g. 51873390C>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)

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