Amelogenesis imperfecta—towards a new classification

Aldred, MJ; Crawford, P. J. M.

doi:10.1111/j.1601-0825.1995.tb00148.x

Cited by 63 publications

(31 citation statements)

References 19 publications

(11 reference statements)

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“…In seeking to make sense of the pathology of inherited enamel conditions, the role of molecular genetics has been repeatedly emphasized [Aldred and Crawford, 1995] since the identification of the first AI-causative gene mutation [Lagerstrom et al, 1991]. Previous work has clearly shown the association between molecular change and phenotype [Wright et al, 2003;Kim et al, 2005a], revealing much about the process of enamel formation.…”

Section: Discussionmentioning

confidence: 99%

Amelogenesis Imperfecta: Genotype-Phenotype Studies in 71 Families

Wright

Torain

Long

et al. 2011

Cells Tissues Organs

115

108

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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.

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Section: Discussionmentioning

confidence: 99%

Amelogenesis Imperfecta: Genotype-Phenotype Studies in 71 Families

Wright

Torain

Long

et al. 2011

Cells Tissues Organs

115

108

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“…3 AI may be inherited in an X-linked manner or as an autosomal dominant or recessive trait. 10 However, there are cases where the diagnosis of AI remains tentative in apparently sporadic cases of enamel defects. Ultimately, it is anticipated that molecular genetics tools will allow more precise diagnosis.…”

Section: Discussionmentioning

confidence: 99%

Literature Review of Amelogenesis Imperfecta with Case Report

Chanmougananda¹,

Ashokan²,

Ashokan³

et al. 2012

JIAOMR

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Amelogenesis imperfecta (AI) is a diverse collection of inherited diseases that exhibit qualitative or quantitative tooth enamel defects in the absence of systemic manifestations. Also known by varied names, such as hereditary enamel dysplasia, hereditary brown opalescent teeth, this defect is entirely ectodermal, since mesodermal components of the teeth are basically normal. This article details a case of AI along with complete review which presents in his twin siblings with clinical, radiological and histopathological report.

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“…The predominant clinical manifestations of affected individuals are enamel hypoplasia (enamel is seemingly correctly mineralized, but OPEN ACCESS thin), hypomineralization (subdivided into hypomaturation and hyocalcification), or a combined phenotype, which is seen in most cases [9]. The trait of AI can be transmitted by an autosomal-dominant, autosomal-recessive, or X-linked mode of inheritance [10]. Approximately 7% of individuals affected by amelogenesis imperfecta have the hypocalcified variant [11].…”

Section: Discussionmentioning

confidence: 99%

Hypocalcified autosomal recessive amelogenesis imperfecta—A case report

Dawasaz¹,

Zakirulla²,

Meer³

2012

OJST

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Amelogenesis imperfecta is an unusual hereditory disorder affecting both primary and permanent dentition. We present a rare case of hypocalcified autosomal recessive amelogenesis imperfecta occuring in primary dentition in a 7-year-old girl with a family history of consanguineous marriage. Clinical and radiological examination revealed discoloration and hypoplasia of enamel with easy chipping affecting both maxillary and mandibular dentition.

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Amelogenesis imperfecta—towards a new classification

Cited by 63 publications

References 19 publications

Amelogenesis Imperfecta: Genotype-Phenotype Studies in 71 Families

Amelogenesis Imperfecta: Genotype-Phenotype Studies in 71 Families

Literature Review of Amelogenesis Imperfecta with Case Report

Hypocalcified autosomal recessive amelogenesis imperfecta—A case report

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