OMIA:001677-9913 : Epidermolysis bullosa, junctionalis, LAMA3-related in Bos taurus
Categories: Integument (skin) phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 226700 (trait) , 600805 (gene) , 245660 (trait) , 226650 (trait)
Links to MONDO diseases: No links.
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: Congenital blistering skin disease characterized by separation of the lamina lucida of the basement membrane zone. Blisters often occur in and around the mouth and on the limbs, leading in the latter case to separation of the hoof or nail from the corium (dermis).
Mapping: An 8.3 Mb region on chromosome BTA24 (Sartelet et al., 2015).
Molecular basis: In four Belgian Blue calves, Sartelet et al. (2015) identified the causal mutation as a nonsense mutation [c.7825C>T] "in the LAMA3 gene that creates a premature stop codon (p.Arg2609*) in exon 60, truncating 22% of the corresponding protein".
Clinical features: As reported by Sartelet et al. (2015), "In the [four] Belgian Blue cases, the main clinical symptoms, present at birth, were the following: extensive skin blistering predominantly located at pressure points and on limb extremities and articulations, hoof exungulation with erythema and multiple mucosal ulcerations in the oral cavity and on the tongue".
Breed: Belgian Blue (Cattle) (VBO_0000139).
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|LAMA3||laminin, alpha 3||Bos taurus||-||no genomic information (-..-)||LAMA3||Homologene, Ensembl , NCBI gene|
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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||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|909||Belgian Blue (Cattle)||Epidermolysis bullosa, junctionalis, LAMA3-related||LAMA3||nonsense (stop-gain)||Naturally occurring variant||ARS-UCD1.2||24||g.32749369G>A||c.7549C>T||p.(R2517*)||2015||26370913||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
|2015||Sartelet, A., Harland, C., Tamma, N., Karim, L., Bayrou, C., Li, W., Ahariz, N., Coppieters, W., Georges, M., Charlier, C. :|
|A stop-gain in the laminin, alpha 3 gene causes recessive junctional epidermolysis bullosa in Belgian Blue cattle. Anim Genet 46:566-70, 2015. Pubmed reference: 26370913 . DOI: 10.1111/age.12342.|
- Changed by Frank Nicholas on 28 Sep 2015
- Created by Frank Nicholas on 28 Sep 2015