A Novel FAM83H Truncation Mutation Disrupts Enamel Mineralization in Autosomal Dominant Hypocalcified Amelogenesis Imperfecta.

Abstract excerpt

OBJECTIVES: Autosomal dominant hypocalcified amelogenesis imperfecta (ADHCAI; OMIM#130900) is a hereditary enamel defect caused by truncation mutations in FAM83H, though the underlying pathogenic mechanisms remain incompletely understood. This study aimed to identify novel FAM83H mutations in a Chinese family with ADHCAI and to investigate their functional consequences on enamel formation. MATERIALS AND METHODS:...

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