Candidate gene sequencing reveals mutations causing hypoplastic amelogenesis imperfecta
نویسندگان
چکیده
منابع مشابه
Enamel protein in smooth hypoplastic amelogenesis imperfecta.
Amelogenesis imperfecta (AI) remains a poorly understood group of hereditary enamel defects characterized by a wide array of clinical presentations. Although numerous reports have described the histological features of AI, knowledge concerning the biochemical composition of the affected enamel remains minimal. The purpose of this investigation was to examine the protein of smooth hypoplastic AI...
متن کاملHypoplastic Amelogenesis Imperfecta type GI (enamel agenesis): a case report
Background and Aim: Amelogenesis Imperfecta is a hereditary complication that affects the quality and quantity of tooth enamel. This disease usually affects both deciduous and permanent dentition and causes various abnormalities such as unaesthetic appearance, dental sensitivity, and severe attrition. The incidence of this condition is estimated at 1 in 14,000 people. At the moment, there are n...
متن کاملCase report: clinical management of hypoplastic amelogenesis imperfecta.
BACKGROUND The fundamental therapeutic problems related to amelogenesis imperfecta treatment are governed by the need to effect primary prevention interventions, reducing the risk of calculus accumulation and caries. There are also aesthetic and functional rehabilitative needs. Clinical management rehabilitation techniques vary depending on the AI type, but usually require restoration of affect...
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...
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: Clinical Oral Investigations
سال: 2018
ISSN: 1432-6981,1436-3771
DOI: 10.1007/s00784-018-2577-9