The detail information of Ectodermal dysplasia/skin fragility syndrome
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: 2012
Species-specific name: -
Species-specific symbol: ED-SFS
More detail information can see in
Associated Breeds
| iDog Breed Number | Breed Name | Personality | Height | Weight | History | Breed Source |
|---|---|---|---|---|---|---|
| CB70 | Chesapeake Bay Retriever | 58.4-66 cm (male), 53.3-61 cm (female) | 29.5-36.3 kg (male), 24.9-31.8 kg (female) | United States | ||
| 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 |
|---|---|---|---|---|
| PKP1 | plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) | Canis lupus familiaris | Chr7 : 1605354 - 1559536 | 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.
| 2012 |
Olivry,T.,Linder,K.E.,Wang,P.,Bizikova,P.,Bernstein,J.A.,Dunston,S.M.,Paps,J.S.,Casal,M.L.: :
Deficient plakophilin-1 expression due to a mutation in PKP1 causes ectodermal dysplasia-skin fragility syndrome in Chesapeake Bay retriever dogs. PLoS One 7:e32072, 2012. Pubmed reference: 22384142 . DOI: 10.1371/journal.pone.0032072 . |