A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3

Mendoza, Gustavo Garrido; Pemberton, Trevor J.; Lee, Kwanghyuk; Scarel‐Caminaga, Raquel Mantuaneli; Mehrian‐Shai, Ruty; González-Quevedo, Catalina; Ninis, Vasiliki; Hartiala, Jaana; Allayee, Hooman; Snead, Malcolm L.; Leal, Suzanne M.; Line, Sérgio Roberto Peres; Patel, Pragna I.

doi:10.1007/s00439-006-0246-6

Cited by 26 publications

(24 citation statements)

References 55 publications

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“…Of the 463 study participants studied from 54 families mutations were detected in only 9 kindreds. Linkage in two large families with autosomal dominant hypocalcified AI was identified to the 8q24.3 locus as has beenreported by others (Mendoza et al 2007). The present study and many recent investigations excluding known candidate genes in the AI families tested suggests that the current candidate genes account for less than 70% of the AI cases.…”

Section: Discussionsupporting

confidence: 60%

Human and Mouse Enamel Phenotypes Resulting from Mutation or Altered Expression of AMEL, ENAM, MMP20 and KLK4

Wright

Hart

et al. 2008

Cells Tissues Organs

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Amelogenesis imperfecta (AI) is caused by AMEL, ENAM, MMP20 and KLK4 gene mutations. Mice lacking expression of the AmelX, Enam and Mmp20 genes have been generated. These mouse models provide tools for understanding enamel formation and AI pathogenesis. This study describes the AI phenotypes and relates them to their mouse model counterparts. Human AI phenotypes were determined in a clinical population of AI families and published cases. Human and murine teeth were evaluated using light and electron microscopy. A total of 463 individuals from 54 families were evaluated and mutations in the AMEL, ENAM and KLK4 genes were identified. The majority of human mutations for genes coding enamel nonproteinase proteins (AMEL and ENAM) resulted in variable hypoplasia ranging from local pitting to a marked, generalized enamel thinning. Specific AMEL mutations were associated with abnormal mineralization and maturation defects. Amel and Enam null murine models displayed marked enamel hypoplasia and a complete loss of prism structure. Human mutations in genes coding for the enamel proteinases (MMP20 and KLK4) cause variable degrees of hypomineralization. The murine Mmp20 null mouse exhibits both hypoplastic and hypomineralized defects. The currently available Amel and Enam mouse models for AI exhibit enamel phenotypes (hypoplastic) that are generally similar to those seen in humans. Mmp20 null mice have a greater degree of hypoplasia than humans with MMP20 mutations. Mice lacking expression of the currently known genes associated with the human AI conditions provide useful models for understanding the pathogenesis of these conditions.

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Section: Discussionsupporting

confidence: 60%

Human and Mouse Enamel Phenotypes Resulting from Mutation or Altered Expression of AMEL, ENAM, MMP20 and KLK4

Wright

Hart

et al. 2008

Cells Tissues Organs

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“…Recently, Mendoza et al . (2006) [42] have mapped a new locus for autosomal dominant amelogenesis imperfecta on the long arm of chromosome 8 at 8q24.3.…”

Section: Resultsmentioning

confidence: 99%

Exclusion of known gene for enamel development in two Brazilian families with amelogenesis imperfecta

et al. 2007

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Amelogenesis imperfecta (AI) is a genetically heterogeneous group of diseases that result in defective development of tooth enamel. Mutations in several enamel proteins and proteinases have been associated with AI. The object of this study was to evaluate evidence of etiology for the six major candidate gene loci in two Brazilian families with AI. Genomic DNA was obtained from family members and all exons and exon-intron boundaries of the ENAM, AMBN, AMELX, MMP20, KLK4 and Amelotin gene were amplified and sequenced. Each family was also evaluated for linkage to chromosome regions known to contain genes important in enamel development. The present study indicates that the AI in these two families is not caused by any of the known loci for AI or any of the major candidate genes proposed in the literature. These findings indicate extensive genetic heterogeneity for non-syndromic AI.

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“…An additional locus for autosomal dominant amelogenesis imperfecta has been found recently on chromosome 8q24.3 [35]. …”

Section: Clinical Descriptionmentioning

confidence: 99%

Amelogenesis imperfecta

Crawford

Aldred²,

Bloch‐Zupan

2007

Orphanet J Rare Dis

334

331

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Abstract

Amelogenesis imperfecta (AI) represents a group of developmental conditions, genomic in origin, which affect the structure and clinical appearance of enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body. The prevalence varies from 1:700 to 1:14,000, according to the populations studied. The enamel may be hypoplastic, hypomineralised or both and teeth affected may be discoloured, sensitive or prone to disintegration. AI exists in isolation or associated with other abnormalities in syndromes. It may show autosomal dominant, autosomal recessive, sex-linked and sporadic inheritance patterns. In families with an X-linked form it has been shown that the disorder may result from mutations in the amelogenin gene, AMELX. The enamelin gene, ENAM, is implicated in the pathogenesis of the dominant forms of AI. Autosomal recessive AI has been reported in families with known consanguinity. Diagnosis is based on the family history, pedigree plotting and meticulous clinical observation. Genetic diagnosis is presently only a research tool. The condition presents problems of socialisation, function and discomfort but may be managed by early vigorous intervention, both preventively and restoratively, with treatment continued throughout childhood and into adult life. In infancy, the primary dentition may be protected by the use of preformed metal crowns on posterior teeth. The longer-term care involves either crowns or, more frequently these days, adhesive, plastic restorations.

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A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3

Cited by 26 publications

References 55 publications

Human and Mouse Enamel Phenotypes Resulting from Mutation or Altered Expression of <i>AMEL, ENAM</i>, <i>MMP20</i> and <i>KLK4</i>

Human and Mouse Enamel Phenotypes Resulting from Mutation or Altered Expression of <i>AMEL, ENAM</i>, <i>MMP20</i> and <i>KLK4</i>

Exclusion of known gene for enamel development in two Brazilian families with amelogenesis imperfecta

Amelogenesis imperfecta

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