FAM83H Mutations in Families with Autosomal-Dominant Hypocalcified 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...
متن کاملAutosomal dominant amelogenesis imperfecta associated with ENAM frameshift mutation p.Asn36Ilefs56.
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 کاملMissense Mutation in Fam83H Gene in Iranian Patients with Amelogenesis Imperfecta
BACKGROUND Amelogenesis Imperfecta (AI) is a disorder of tooth development where there is an abnormal formation of enamel or the external layer of teeth. The aim of this study was to screen mutations in the four most important candidate genes, ENAM, KLK4, MMP20 and FAM83H responsible for amelogenesis imperfect. METHODS Geneomic DNA was isolated from five Iranian families with 22 members affec...
متن کاملUltrastructural analyses of deciduous teeth affected by hypocalcified amelogenesis imperfecta from a family with a novel Y458X FAM83H nonsense mutation.
BACKGROUND Nonsense mutations in FAM83H are a recently described underlying cause of autosomal dominant (AD) hypocalcified amelogenesis imperfecta (AI). OBJECTIVE This study aims to report a novel c.1374C>A p.Y458X nonsense mutation and describe the associated ultrastructural phenotype of deciduous teeth. METHODS A family of European origin from the Iberian Peninsula with AD-inherited AI wa...
متن کاملMutation 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 ...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2008
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2007.09.020