OMIA 001805-9615 : Amelogenesis imperfecta, ENAM-related in Canis lupus familiaris
In Samoyed dogs, Pedersen et al. (2017) reported "Two potential deleterious mutations in SCL24A on CFA8 and in strong linkage disequilibrium were ultimately identified in ARAI affected dogs, an asynonymous change (C to T) in exon 12 changing amino acid proline to leucine and a 21 bp duplication in exon 17". The extent to which either of these variants is actually associated with the disorder in this breed is not clear from the paper: the missense variant was not investigated beyond its discovery, and for the deletion variant, Pedersen et al. (2017) reported that "The 14/182 (7.8%) dogs that were presumed to have enamel hypoplasia based on physical examination and DNA testing all were homozygous for the mutation. Twenty of 168 (12%) heathy dogs were found to be heterologous [sic] for the mutation and most were parents or known close relatives of affected dogs." Thus it is not evident whether all dogs diagnosed solely on a clinical basis were homozygous and whether all known parents of affected dogs were heterozygous.
Hytönen et al. (2019) reported a likely causal variant in Parson Russell Terriers: "A fully segregating missense variant (c.716C>T) in exon 8 of ENAM substitutes a well-conserved proline to leucine, p.(Pro239Leu), resulting in a clinical hypomineralization of teeth".Clinical features: For Italian Greyhounds, the clinical signs as reported by Gandolfi et al. (2013) are "A brownish mottling and roughening of teeth is apparent in areas where enamel is thin or absent . . . . Affected permanent teeth are often small and pointed compared with normal teeth . . . . Greater than normal gaps between teeth are often noticeable in young dogs and become more apparent with age due to premature enamel wear". Prevalence: Hytönen et al. (2019) reported a carrier frequency of 9% for the c.716C>T ENAM variant in Parson Russell Terriers. Breeds: Greyhound, Parson Russell Terrier, Standard Poodle. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ENAM||enamelin||Canis lupus familiaris||13||NC_006595.3 (59934299..59948279)||ENAM||Homologene, Ensembl, NCBI gene|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
|Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Year Published||PubMed ID(s)||Acknowledgements|
|Italian Greyhound||Amelogenesis imperfecta||ENAM||deletion, small (<=20)||c.1991_1995delTTTCC||p.Phe665Argfs*3||2013||23638899|
|Parson Russell Terrier||Amelogenesis imperfecta||ENAM||missense||CanFam3.1||13||c.716C>T||p.Pro239Leu||2019||30877375|
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.|
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