S-Space College of Dentistry/School of Dentistry (치과대학/치의학대학원) Dept. of Dentistry (치의학과) Journal Papers (저널논문_치의학과)
FAM83H Mutations in Families with Autosomal-Dominant Hypocalcified Amelogenesis Imperfecta
- Issue Date
- Am. J. Hum. Genet. 82,489–494
- 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
hypocalcified AI and have identified nonsense mutations (R325X and Q398X) in the FAM83H gene on chromosome 8q24.3.
The mutations perfectly cosegregate with the disease phenotype and demonstrate that FAM83H is required for proper dental-enamel
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