A Novel De Novo SP6 Mutation Causes Severe Hypoplastic Amelogenesis Imperfecta
نویسندگان
چکیده
منابع مشابه
Novel genetic linkage of rat Sp6 mutation to Amelogenesis imperfecta
BACKGROUND Amelogenesis imperfecta (AI) is an inherited disorder characterized by abnormal formation of tooth enamel. Although several genes responsible for AI have been reported, not all causative genes for human AI have been identified to date. AMI rat has been reported as an autosomal recessive mutant with hypoplastic AI isolated from a colony of stroke-prone spontaneously hypertensive rat s...
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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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...
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We identified a family in which pitted hypomineralized amelogenesis imperfecta (AI) with premature enamel failure segregated in an autosomal recessive fashion. Whole-exome sequencing revealed a missense mutation (c.586C>A, p.P196T) in the I-domain of integrin-β6 (ITGB6), which is consistently predicted to be pathogenic by all available programmes and is the only variant that segregates with the...
متن کاملEnamel 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...
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ژورنال
عنوان ژورنال: Genes
سال: 2021
ISSN: 2073-4425
DOI: 10.3390/genes12030346