The detail information of Epidermolysis bullosa, dystrophic
OMIA Basic Information

Possible human homologues (MIM numbers):

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Year key mutation first reported: 2003

Species-specific name: Recessive dystrophic epidermolysis bullosa (RDEB)

Species-specific symbol: -

More detail information can see in

Associated Breeds
iDog Breed Number Breed Name Personality Height Weight History Breed Source
CB68 Central Asian Shepherd Dog 25.5-27.5 inches 88-110 pounds Russia
CB116 Golden Retriever 58.4-61 cm (male), 54.6-57.2 cm (female) 29.5-34 kg (male), 24.9-29.5 kg (female) United Kingdom (Scotland)
Associated Gene
Symbol Description Species Position Other Links
COL7A1 collagen, type VII, alpha 1 Canis lupus familiaris Chr20 : 41004719 - 41035678 Homologene, Ensembl, NCBI gene
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.
2020 Garcia,T.M.,Kiener,S.,Jagannathan,V.,Russell,D.S.,Leeb,T.: :
A COL7A1 variant in a litter of neonatal Basset Hounds with dystrophic epidermolysis bullosa. Genes (Basel) 11:, 2020.
Pubmed reference: 33291836 . DOI: 10.3390/genes11121458 .
2017 Niskanen,J.,Dillard,K.,Arumilli,M.,Salmela,E.,Anttila,M.,Lohi,H.,Hytönen,M.K.: :
Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs. PLoS One 12:e0177527, 2017.
Pubmed reference: 28493971 . DOI: 10.1371/journal.pone.0177527 .
2011 Gache,Y.,Pin,D.,Gagnoux-Palacios,L.,Carozzo,C.,Meneguzzi,G.: :
Correction of Dog Dystrophic Epidermolysis Bullosa by Transplantation of Genetically Modified Epidermal Autografts. J Invest Dermatol :, 2011.
Pubmed reference: 21697889 . DOI: 10.1038/jid.2011.172 .
2005 Magnol,JP.,Pin,D.,Palazzi,X.,Lacour,JP.,Gache,Y.,Meneguzzi,G.: :
[Characterization of a canine model of dystrophic bullous epidermolysis (DBE). Development of a gene therapy protocol] Bull Acad Natl Med 189:107-19; discussion 119-21, 2005.
Pubmed reference: 16119884 .
2003 Baldeschi,C.,Gache,Y.,Rattenholl,A.,Bouillé,P.,Danos,O.,Ortonne,J.P.,Bruckner-Tuderman,L.,Meneguzzi,G.: :
Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors. Hum Mol Genet 12:1897-905, 2003.
Pubmed reference: 12874109 .
2000 Palazzi,X.,Marchal,T.,Chabanne,L.,Spadafora,A.,Magnol,J.P.,Meneguzzi,G.: :
Inherited dystrophic epidermolysis bullosa in inbred dogs: A spontaneous animal model for somatic gene therapy Journal of Investigative Dermatology 115:135-137, 2000.
Pubmed reference: 10886525 . DOI: 10.1046/j.1523-1747.2000.00031-5.x .
1995 Nagata,M.,Shimizu,H.,Masunaga,T.,Nishikawa,T.,Nanko,H.,Kariya,K.,Washizu,T.,Ishida,T.: :
Dystrophic form of inherited epidermolysis bullosa in a dog (akita inu) British Journal of Dermatology 133:1000-1003, 1995.
Pubmed reference: 8547021 .