Mutation at the Exon-Intron Boundary Autosomal-dominant Hypoplastic Form of Amelogenesis Imperfecta Caused by an Enamelin Gene
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منابع مشابه
Mutation Screening of ENAM, KLK4, MMP20 and FAM83H Genes among the Members of Five Iranian Families Affected with Autosomal Recessive Hypoplastic Amelogenesis Imperfecta
Amelogenesis Imperfectas (AIs) are clinically and genetically heterogeneous conditions characterized by a wide range of clinical features. These abnormalities of enamel formation are categorized into three main groups, hypoplastic, hypomaturation and hypocalcified with different modes of inheritance such as autosomal recessive (AR), autosomal dominant (AD) and X-lined recessive (XLR). In spite ...
متن کاملA nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2).
Amelogenesis imperfecta (AI) is an inherited tooth disorder affecting tooth enamel formation only. A gene for autosomal dominant AI, the local hypoplastic form, has been localized to a 4 Mb region on chromosome 4q (AIH2). The enamelin gene (ENAM ), has been mapped to chromosome 4q21, to the same region as AIH2, and was recently shown to be mutated in patients with smooth and thin hypoplastic au...
متن کاملEnamelin and Autosomal-dominant Amelogenesis Imperfecta on Behalf Of: International and American Associations for Dental Research Introduction
Dental enamel forms as a progressively thickening extracellular layer by the action of proteins secreted by ameloblasts. The most abundant enamel protein is amelogenin, which is expressed primarily from a gene on the X-chromosome (AMELX). The two most abundant non-amelogenin enamel proteins are ameloblastin and enamelin, which are expressed from the AMBN and ENAM genes, respectively. The human ...
متن کامل[Genetic, clinical and molecular analysis of a family affected by amelogenesis imperfecta].
BACKGROUND Amelogenesis Imperfecta (AI) is a group of conditions where there is an abnormal formation of enamel in terms of quantity, structure and composition. AI is clinically and genetically heterogeneous, there are sex linked and autosomal versions, dominant and/or recessive, with phenotypes of hypoplastic, hypocalcified or hypomature enamel. Only recently, through clinical, genetic and mol...
متن کاملClinical and molecular analysis of the enamelin gene ENAM in Colombian families with autosomal dominant amelogenesis imperfecta
In this study, we analyzed the phenotype, clinical characteristics and presence of mutations in the enamelin gene ENAM in five Colombian families with autosomal dominant amelogenesis imperfecta (ADAI). 22 individuals (15 affected and seven unaffected) belonging to five Colombian families with ADAI and eight individuals (three affected and five unaffected) belonging to three Colombian families w...
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