OMIA 001677-9913 : Epidermolysis bullosa, junctionalis, LAMA3-related in Bos taurus

In other species: dog , horse

Possibly relevant human trait(s) and/or gene(s) (MIM number): 226700

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: Blisters in and around the mouth and on the limbs, leading in the latter case to separation of the hoof from the corium (dermis), resulting in inability to stand.

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.

Associated gene:

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

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.

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
Belgian Blue Epidermolysis bullosa, junctionalis, LAMA3-related LAMA3 nonsense (stop-gain) UMD3.1 24 g.33111473C>T c.7549C>T p.R2517* 2015 26370913 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

Reference


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.

Edit History


  • Created by Frank Nicholas on 28 Sep 2015
  • Changed by Frank Nicholas on 28 Sep 2015