Amelogenesis imperfecta: Genotype-phenotype studies in 71 families

Wright, J. Timothy, Torain, Melody, Long, Kimberly, Seow, Kim, Crawford, Peter, Aldred, Michael J., Hart, P. Suzanne and Hart, Tom C. (2011) Amelogenesis imperfecta: Genotype-phenotype studies in 71 families. Cells Tissues Organs, 194 2-4: 279-283. doi:10.1159/000324339

Author Wright, J. Timothy
Torain, Melody
Long, Kimberly
Seow, Kim
Crawford, Peter
Aldred, Michael J.
Hart, P. Suzanne
Hart, Tom C.
Title Amelogenesis imperfecta: Genotype-phenotype studies in 71 families
Journal name Cells Tissues Organs   Check publisher's open access policy
ISSN 1422-6405
Publication date 2011-08-01
Sub-type Article (original research)
DOI 10.1159/000324339
Open Access Status Not yet assessed
Volume 194
Issue 2-4
Start page 279
End page 283
Total pages 5
Place of publication Oxford, United Kingdom
Publisher Wiley-Blackwell Publishing
Language eng
Abstract Amelogenesis imperfecta (AI) represents hereditary conditions affecting the quality and quantity of enamel. Six genes are known to cause AI (AMELX, ENAM, MMP20, KLK4, FAM83H, and WDR72). Our aim was to determine the distribution of different gene mutations in a large AI population and evaluate phenotype-genotype relationships. Affected and unaffected family members were evaluated clinically and radiographically by one examiner. Genotyping was completed using genomic DNA obtained from blood or saliva. A total of 494 individuals were enrolled, with 430 (224 affected, 202 unaffected, and 4 not definitive) belonging to 71 families with conditions consistent with the diagnosis of AI. Diverse clinical phenotypes were observed (i.e. hypoplastic, hypocalcified, and hypomaturation). Genotyping revealed mutations in all 6 candidate genes. A molecular diagnosis was made in 132 affected individuals (59%) and in 26 of the families (37%). Mutations involved 12 families with FAM83H (46%), 6 families with AMELX (23%), 3 families with ENAM (11%), 2 families with KLK4 and MMP20 (8% for each gene), and 1 family with a WDR72 mutation (4%). Phenotypic variants were associated with allelic FAM83H and AMELX mutations. Two seemingly unrelated families had the same KLK4 mutation. Families affected with AI where candidate gene mutations were not identified could have mutations not identifiable by traditional gene sequencing (e.g. exon deletion) or they could have promoter sequence mutations not evaluated in this study. However, the results suggest that there remain new AI causative genes to be identified.
Keyword Enamel
Amelogenesis imperfecta
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2012 Collection
School of Dentistry Publications
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