Oral Surgery, Oral Medicine, Oral Pathology
Amelogenesis imperfecta among Israeli Jews and the description of a new type of local hypoplastic autosomal recessive amelogenesis imperfecta☆
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Cited by (77)
Novel missense mutation of the FAM83H gene causes retention of amelogenin and a mild clinical phenotype of hypocalcified enamel
2015, Archives of Oral BiologyCitation Excerpt :In hypomature AI, although the enamel thickness is normal, there is a defect in protein removal and the growth of crystals during the maturation stage, resulting in enamel with abnormal hardness and transparency and a decreased radiopacity similar to that of dentine.8–10 The AI prevalence varies widely depending on the population studied; for example, the reported figures are 1:4000 in Sweden,11 1:8000 in Israeli Jews12 and 1:14,000 in the U.S.13 For Chile, there are no data on the prevalence and/or incidence of AI. To date, mutations in genes encoding secreted proteins of the enamel matrix (e.g., AMELX, ENAM and AMBN), enamel proteases (e.g., MMP20 and KLK4) and proteins that participate in biomineralization (e.g., C4orf26), ion transport (e.g., SLC24A4 and STIM1) and the cytoskeletal organization of keratins (e.g., FAM83H), intracellular vesicular traffic (e.g., WDR72) and cellular adhesion proteins (e.g., LAMB3 and ITGB6) have been shown to cause non-syndromic AI, with various patterns of inheritance.
Novel FAM20A mutation causes autosomal recessive amelogenesis imperfecta
2015, Archives of Oral BiologyCitation Excerpt :AI has been classified into 14 different subtypes according to the clinical appearance of the enamel and the Mendelian mode of inheritance2; however, the molecular genetic basis for only some of the phenotypes has been defined. The prevalence of AI has been reported to be 1:14,000 in the USA,2 1:8000 in Israel,3 1:4000 in Sweden4 and as high as 1:700 in the Vasterbotten country of Sweden.5 The enamel abnormalities have been categorized into three major groups (hypocalcified, hypomaturation and hypoplastic), and the inheritance patterns reported include autosomal dominant or recessive as well as X-linked dominant or recessive heredity.2
Impact of moderate and severe hypodontia and amelogenesis imperfecta on quality of life and self-esteem of adult patients
2013, Journal of DentistryCitation Excerpt :Prevalence of AI varies widely between different epidemiological reports. Values ranging between 43:10,000 in Turkey,8 to 14:10000 in Sweden,9 to 10:10000 in Argentina,10 and 1.25:10000 in Israel 11 have been reported. These values suggest that the average global prevalence is 1 in 200.12
Epigenetics in developmental defects of enamel: A scoping review
2023, Oral DiseasesAmelogenesis Imperfecta Restorations Survival Rate: A Retrospective Study
2023, Malaysian Journal of Medicine and Health Sciences
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This investigation was supported in part by United States Public Health Service contract 06-663-1.
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Department of Pedodontics.
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Department of Human Genetics, Faculty of Medicine.