{"id":23905,"date":"2025-04-22T18:54:48","date_gmt":"2025-04-22T18:54:48","guid":{"rendered":"https:\/\/labgenvet.ca\/?page_id=23905"},"modified":"2025-04-22T18:55:35","modified_gmt":"2025-04-22T18:55:35","slug":"epidermolysis-bullosa-junctional-itga6-related","status":"publish","type":"page","link":"https:\/\/labgenvet.ca\/en\/epidermolysis-bullosa-junctional-itga6-related\/","title":{"rendered":"Epidermolysis bullosa, junctional, ITGA6-related"},"content":{"rendered":"

Epidermolysis bullosa, junctional, ITGA6-related<\/strong><\/h1>\n

 <\/p>\n

Gene<\/strong>:\u00a0ITGA6<\/p>\n

Transmission<\/strong>: Autosomal, recessive<\/p>\n

For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease.\u00a0 Both parents of an affected animal must be carriers of at least one copy of the mutation.\u00a0 Animals that have only one copy of the mutation are not at risk of developing the disease but are carrier animals that can pass the mutation on to future generations.<\/p>\n

Mutation<\/strong>: Substitution,<\/strong> ITGA6 gene (splicing error) ; c.2160+1G>T, p.Ile657Met frameshift STOP 1), exon15, chromosome 2.<\/p>\n

Breed<\/strong>: Charolais<\/p>\n

Medical system:<\/strong>\u00a0Dermal<\/p>\n

Age of onset of symptoms<\/strong>: At birth.<\/p>\n

Junctional epidermolysis bullosa in Charolais cows is a genetic disease characterized by congenital skin fragility with mechanically induced blistering of the skin and mucous membranes. Clinical signs appear from birth and include skin erosion and ulceration in areas of skin folds and friction such as at the base of the neck, ears, limb tips, muzzle, and tongue. \u00a0Abnormal growth or development of the hooves may lead to hoof decay. Additionally, affected calves may have minor malformations of the tips of the ear flaps. Young animals with junctional epidermolysis bullosa are normally euthanized for humane reasons, as there are no curative treatments available for this genetic disease.<\/p>\n

DNA studies identified a mutation in the ITGA6 gene as one cause of the disease phenotype.\u00a0 The ITGA6 gene codes for the A6 subunit of integrin proteins; integrins are transmembrane proteins that are essential for attachment epithelial cells to the basement membrane via hemidesmosomes.<\/p>\n

Note that the A6 subunit of integrins associates with the beta 4 subunit, coded for by the ITGB4 gene.\u00a0 A mutation in the ITGB4 gene is another cause of epidermolysis bullosa in the cow.<\/p>\n

See also:<\/p>\n

ITGB4 gene, Charolais.\u00a0 OMIA link: [1948-9913<\/a>]<\/p>\n

 <\/p>\n

References:<\/strong><\/p>\n

OMIA link: [2718-9913<\/a>]<\/p>\n

Boussaha M, Boulling A, Wolgust V, et al. (2023<\/strong>) Integrin alpha 6 homozygous splice-site mutation causes a new form of junctional epidermolysis bullosa in Charolais cattle.\u00a0Genet Sel Evol\u00a055:40. [pm\/37308849<\/a>]<\/p>\n

Michot P, Fantini O, Braque R, et al. (2015<\/strong>) 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.\u00a0Genet Sel Evol\u00a047:37. [pm\/25935160<\/a>]<\/p>\n

Peters M, Reber I, Jagannathan V, et al. (2015<\/strong>) DNA-based diagnosis of rare diseases in veterinary medicine: a 4.4\u00a0kb deletion of ITGB4 is associated with epidermolysis bullosa in Charolais cattle.\u00a0BMC Vet Res\u00a011:48. [pm\/25890340<\/a>]<\/p>\n

 <\/p>\n

Contributed by: \u00c9lodie Cardin and Elie Tremblay, Class of 2029, Facult\u00e9 de m\u00e9decine v\u00e9t\u00e9rinaire, Universit\u00e9 de Montr\u00e9al.\u00a0 (Translation DWS)<\/p>\n","protected":false},"excerpt":{"rendered":"

Epidermolysis bullosa, junctional, ITGA6-related   Gene:\u00a0ITGA6 Transmission: Autosomal, recessive For an autosomal recessive genetic disease an animal must have two copies of the mutation in question to be at risk of developing the disease.\u00a0 Both parents of an affected animal must be carriers of at least one copy of the mutation.\u00a0 Animals that have only…<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"footnotes":""},"class_list":["post-23905","page","type-page","status-publish","hentry","description-off"],"acf":[],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/labgenvet.ca\/en\/wp-json\/wp\/v2\/pages\/23905","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/labgenvet.ca\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/labgenvet.ca\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/labgenvet.ca\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/labgenvet.ca\/en\/wp-json\/wp\/v2\/comments?post=23905"}],"version-history":[{"count":2,"href":"https:\/\/labgenvet.ca\/en\/wp-json\/wp\/v2\/pages\/23905\/revisions"}],"predecessor-version":[{"id":23907,"href":"https:\/\/labgenvet.ca\/en\/wp-json\/wp\/v2\/pages\/23905\/revisions\/23907"}],"wp:attachment":[{"href":"https:\/\/labgenvet.ca\/en\/wp-json\/wp\/v2\/media?parent=23905"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}