Epidermolysis bullosa, dystrophic

 

Gene: COL7A1

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.  Both parents of an affected animal must be carriers of at least one copy of the mutation.  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.

Mutations:

Golden Retriever mutation: Substitution, COL7A1 gene; c.5716 G>A, p.(G1906S)

Central Asian Shepherd mutation: Substitution, COL7A1 gene; c.4579 C>T; p.(R1527 STOP)

Basset Hound mutation: Deletion + duplication, COL7A1 gene: c.2028_2034 del., 1993_2050 + 56 dup, p.(V677S fs STOP 11)

Medical sytem: Dermal

Breeds: Basset Hound, Central Asian Shepherd, English Bulldog, Golden Retriever, Goldendoodle, Rhodesian Ridgeback

Age of onset of symptoms: Present at birth

Dystrophic epidermolysis bullosa of the Golden Retriever is a painful congenital dermatological disease. Affected individuals have extremely fragile skin and develop wounds, ulcers and scars easily. Ears, pads, the genital area and the head are mainly affected.  In addition, ulcers develop in the mouth and esophagus, causing pain while eating and resulting in growth retardation.  Ulcerations in the skin generally resolve around 8 months of age.  Ulcers in the mouth and esophagus persist into adulthood.

 

References:

OMIA link: [0341-9615]

Niskanen J, Dillard K, Arumilli M, et al. (2017) Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs. PLoS One. 12(5):e0177527. [pubmed/28493971]

Magnol JP, Pin D, Palazzi X, et al. (2005) Characterization of a canine model of dystrophic bullous epidermolysis (DBE). Development of a gene therapy protocol. Bull Acad Natl Med. 189(1):107-121. [pubmed/16119884]

Baldeschi C, Gache Y, Rattenholl A, et al. (2003) Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors. Human Molecular Genetics. 12(15):1897-1905. [pubmed/12874109]