LAMB3 Mutations Causing Autosomal-dominant Amelogenesis Imperfecta
نویسندگان
چکیده
منابع مشابه
FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta.
Amelogenesis imperfecta (AI) is a collection of diverse inherited disorders featuring dental-enamel defects in the absence of significant nondental symptoms. AI phenotypes vary and are categorized as hypoplastic, hypocalcified, and hypomaturation types. Phenotypic specificity to enamel has focused research on genes encoding enamel-matrix proteins. We studied two families with autosomal-dominant...
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To the Editor : Amelogenesis imperfecta (AI) is a collection of nonsyndromic inherited diseases featuring a variety of abnormal enamel phenotypes, patterns of inheritance, and causative genes. The term is also used to indicate the presence of an enamel phenotype in syndromes. Dental enamel is the most highly mineralized tissue in the body, lacks collagen, and is the product of specialized epith...
متن کاملNovel ENAM and LAMB3 Mutations in Chinese Families with Hypoplastic Amelogenesis Imperfecta
Amelogenesis imperfecta is a group of inherited diseases affecting the quality and quantity of dental enamel. To date, mutations in more than ten genes have been associated with non-syndromic amelogenesis imperfecta (AI). Among these, ENAM and LAMB3 mutations are known to be parts of the etiology of hypoplastic AI in human cases. When both alleles of LAMB3 are defective, it could cause junction...
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To the Editor : Amelogenesis imperfecta (AI) is a collective term referring to inherited malformation of tooth enamel without other non-oral symptoms. Junctional epidermolysis bullosa (JEB) is a group of recessive genetic disorders featuring skin fragility, easy blistering and AI. Carriers having only one defective allele usually have no disease phenotype; however, rarely, heterozygous conditio...
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...
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ژورنال
عنوان ژورنال: Journal of Dental Research
سال: 2013
ISSN: 0022-0345,1544-0591
DOI: 10.1177/0022034513502054