OMIA 001948-9940 : Epidermolysis bullosa, junctionalis, ITGB4-related in Ovis aries

In other species: cattle

Possibly relevant human trait(s) and/or gene(s) (MIM number): 147557

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: Also known as Epidermolysis bullosa, junctional, non-Herlitz type

Mapping: By conducting a GWAS on 20 affected, 28 related normal and 48 unrelated normal Churra sheep, each of which had been genotyped with the Illumina OvineSNP50 BeadChip (yielding 44,785 informative SNPs), Suárez-Vega et al. (2015) mapped this disorder to chromosome OAR11, in the vicinity of marker rs410387229 at 54,939,690 bp (OARv3.1). Subsequent homozygosity mapping narrowed the region to "an 868-kb homozygous segment, from 54,632,309–55,500,100 bp". This implicated a very likely comparative locational candidate gene, namely ITGB4.

Molecular basis: Small deletion: "a 4-bp deletion within exon 33 of the ITGB4 gene (c.4412_4415del;[ OAR11:54,849,767–54,849,770 bp; Oar v3.1]). The c.4412_4415del mutation causes a frameshift resulting in a premature stop codon at position 1472 of the integrin β4 protein" (Suárez-Vega et al., 2015)

Breed: Churra.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
ITGB4 integrin beta 4 Ovis aries 11 NC_040262.1 (7395216..7427544) ITGB4 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.

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
Churra Epidermolysis bullosa, junctionalis, ITGB4 ITGB4 deletion, small (<=20) Oar_v3.1 11 g.54849767-54849770 c.4412_4415del 2015 25955497


2015 Suárez-Vega, A., Gutiérrez-Gil, B., Benavides, J., Perez, V., Tosser-Klopp, G., Klopp, C., Keennel, S.J., Arranz, J.J. :
Combining GWAS and RNA-Seq Approaches for Detection of the Causal Mutation for Hereditary Junctional Epidermolysis Bullosa in Sheep. PLoS One 10:e0126416, 2015. Pubmed reference: 25955497. DOI: 10.1371/journal.pone.0126416.

Edit History

  • Created by Frank Nicholas on 17 May 2015
  • Changed by Frank Nicholas on 17 May 2015