The detail information of Amelogenesis imperfecta, ENAM-related
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: 2013
Species-specific name: -
Species-specific symbol: -
More detail information can see in
Associated Breeds
Associated Gene
| Symbol | Description | Species | Position | Other Links |
|---|---|---|---|---|
| ENAM | enamelin | Canis lupus familiaris | Chr13 : 60739886 - 60753519 | 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.
| 2019 |
Hytönen,M.K.,Arumilli,M.,Sarkiala,E.,Nieminen,P.,Lohi,H.: :
Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants. Hum Genet :, 2019. Pubmed reference: 30877375 . DOI: 10.1007/s00439-019-01997-8 . |
| 2018 |
Nicholas,F.W.,Mellersh,C.,Lewis,T.: :
Letter to the editor regarding an autosomal recessive mutation in SCL24A4 causing enamel hypoplasia in Samoyed and its relationship to breed-wide genetic diversity. Canine Genet Epidemiol 5:4, 2018. Pubmed reference: 29744112 . DOI: 10.1186/s40575-018-0059-7 . |
| 2017 |
Pedersen,N.C.,Shope,B.,Liu,H.: :
An autosomal recessive mutation in SCL24A4 causing enamel hypoplasia in Samoyed and its relationship to breed-wide genetic diversity. Canine Genet Epidemiol 4:11, 2017. Pubmed reference: 29201383 . DOI: 10.1186/s40575-017-0049-1 . |
| 2013 |
Gandolfi,B.,Liu,H.,Griffioen,L.,Pedersen,N.C.: :
Simple recessive mutation in ENAM is associated with amelogenesis imperfecta in Italian Greyhounds. Anim Genet 44:569-78, 2013. Pubmed reference: 23638899 . DOI: 10.1111/age.12043 . |
| 2009 |
Mannerfelt,T.,Lindgren,I.: :
Enamel defects in Standard Poodle dogs in Sweden. Journal of Veterinary Dentistry 26:213-215, 2009. |