OMIA 001948-9913 : Epidermolysis bullosa, junctionalis, ITGB4-related in Bos taurus

In other species: sheep

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: Searching for regions of extended homozygosity in the affacted calf enabled Peters et al. (2015) to map this disorder to "a 54.7 Mb interval from 7.6 to 62.3 Mb" on chromosome BTA19. This region contains four comparative candidate genes, including ITGB4 (see below).

Molecular basis: By whole-genome sequencing a single affected Charolais calf, and concentrating on comparative functional candidate genes based on careful diagnosis, Peters et al. (2015) identified the causative mutation to be "a 4.4 kb deletion involving exons 17 to 22" of the ITGB4 gene. The authors noted that "The transcript of the mutant allele lacked information regarding a significant part of the encoded protein since the deletion led to a frameshift and a premature stop codon. It was therefore assumed that the mutant transcripts probably underwent nonsense mediated decay so that, in the final analysis, the deletion represented a loss-of-function mutation with a non-existing integrin protein in the epidermis of the affected animal." Genotyping of 162 Charolais from the same herd confirmed the association between this deletion and the disorder.

Michot et al. (2015) independently mapped the disorder in Charolais and identified the same causal mutation.

Breed: Charolais.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
ITGB4 integrin subunit beta 4 Bos taurus 19 NC_037346.1 (55872542..55840150) ITGB4 Homologene, Ensembl, NCBI gene

Variants

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

Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the required column headers

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
Charolais Epidermolysis bullosa, junctionalis, ITGB4 ITGB4 deletion, gross (>20) "a 4.4 kb deletion involving exons 17 to 22" of the ITGB4 gene 2015 25890340

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.
2015 Michot, P., Fantini, O., Braque, R., Allais-Bonnet, A., Saintilan, R., Grohs, C., Barbieri, J., Genestout, L., Danchin-Burge, C., Gourreau, J.M., Boichard, D., Pin, D., Capitan, A. :
Whole-genome sequencing identifies a homozygous deletion encompassing exons 17 to 23 of the integrin beta 4 gene in a Charolais calf with junctional epidermolysis bullosa. Genet Sel Evol 47:37, 2015. Pubmed reference: 25935160. DOI: 10.1186/s12711-015-0110-z.
Peters, M., Reber, I., Jagannathan, V., Raddatz, B., Wohlsein, P., Drögemüller, C. :
DNA-based diagnosis of rare diseases in veterinary medicine: a 4.4 kb deletion of ITGB4 is associated with epidermolysis bullosa in Charolais cattle. BMC Vet Res 11:48, 2015. Pubmed reference: 25890340. DOI: 10.1186/s12917-015-0366-0.
2004 Guaguere, E,, Berg, K., Degorce-Rubioales, F. , Spadafora, A., Meneguzzi, G. :
FC-26 Junctional epidermolysis bullosa in a Charolais calf with deficient expression of integrin α6β4 (abstract) Veterinary Dermatology 15(Suppl. 1):28 only, 2004. DOI: 10.1111/j.1365-3164.2004.411_26.x.

Edit History


  • Created by Frank Nicholas on 24 Mar 2015
  • Changed by Frank Nicholas on 24 Mar 2015
  • Changed by Frank Nicholas on 17 May 2015