Search Term: Amelogenesis Imperfecta
Breeds
Relevance Rating: There is moderate evidence or research available for these breeds
Relevance Rating: There is some evidence or research available in this breed
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
Disease Name
Amelogenesis Imperfecta
Disease Name 2
Familial Enamel Hypoplasia
OMIA
1805
Gene Name
ENAM
Gene Name 2
SLC24A4
Mutation
c.1992_1996delTTTCC
Mutation 2
21 bp duplication in exon 17
OMIM
104500
Disease Code
AI
Test Type
Genetic Disease/Disorder
Details
The disease is caused by a thinning or absent outer enamel layer with irregular pitting, paired with with patchy tooth discoloration. Owners report teeth appearing smaller, and having a "rough" texture with dark patches. Dogs can experience sensitivity, tooth wear, tartar, gingivitis, bad breath, and periodontal diseases leading to tooth loss and gum problems. Age of onset when the permanent teeth erupt, around 5-6 months of age (varying slightly by breed).
Details 2
The disease is characterized by a thinning or absent outer enamel layer with irregular pitting. Appearing with patchy tooth discoloration, sensitivity, tooth wear, tartar, gingivitis and periodontitis. All in all, can cause a "rough" texture and "dark patches" on the teeth. Age of onset when the permanent teeth erupt, around 5-6 months of age (varying slightly by breed). Associated periodontal disease can lead to bone loss, gum recession and tooth loss. Halitosis is also common.
Application Information
Mutations are breed-specific. Not to be confused with Amelogenesis Imperfecta, ACP4-related.
Published
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.
Published 2
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.
Body/System/Process
Teeth
OMIA Url
Inheritance
AR
Gene Name Text
enamelin
Researched Breeds
Greyhound, Standard Poodle, Samoyed
Breed-specific 1
Samoyed
Breed-specific 1 Details
SLC24A4 gene, with the 21 bp duplication in exon 17 mutation
GTPs
Heidelberg, BW
DE
DE
Generatio GmbH Center for Animal Genetics
HGTD Leadership Sponsor Test Discovery- GTP In House Testing Out Sourced Testing Participation Pending Supporter
Toronto, Ontario
CA
CA
Maribor
SI
SI
EVG Diagnostics
In House Testing ISO Accredited/ GTP Non-Participant Other Recognized Accreditation Out Sourced Testing
Plzen
CZ
CZ
Genomia s.r.o
HGTD Leadership Sponsor In House Testing ISO Accredited/ GTP ISO Accredited/LAB ISO Accredited/tests Participation Pending
Bad Kissingen, Bavaria
DE
DE
Laboklin Gmbh & Co. KG
HGTD Leadership Sponsor Test Discovery- GTP In House Testing ISO Accredited/ GTP ISO Accredited/LAB ISO Accredited/tests Other Recognized Accreditation Out Sourced Testing Participation Pending Any Patents Held Supporter
St. Kilda, Victoria
AU
AU
Spokane, Washington
US
US
Paw Print Genetics
HGTD Leadership Sponsor Test Discovery- GTP In House Testing Non-Participant Other Recognized Accreditation Subsidiary Company
Davis, California
US
US
Veterinary Genetics Laboratory
HGTD Leadership Sponsor Test Discovery- GTP In House Testing Non-Participant Other Recognized Accreditation
Wageningen
NL
NL
VHL Genetics
HGTD Leadership Sponsor Test Discovery- GTP In House Testing ISO Accredited/ GTP ISO Accredited/LAB Out Sourced Testing Supporter
Vancouver, Washington
US
US
Wisdom Panel - Kinship
HGTD Leadership Sponsor Test Discovery- GTP Other Recognized Accreditation Out Sourced Testing Participation Pending Sponsor
Zagreb
HR
HR