title: FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta.
abstract: 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 calcification.
authors.affiliation: Department of Cell and Developmental Biology, Dental Research Institute, School of Dentistry, Seoul National University, 275-1 Yongon-dong, Chongno-gu, Seoul 110-768, Korea. pedoman@snu.ac.kr
authors.forename: Jung-Wook
authors.initials: JW
authors.lastname: Kim
authors.forename: Sook-Kyung
authors.initials: SK
authors.lastname: Lee
authors.forename: Zang Hee
authors.initials: ZH
authors.lastname: Lee
authors.forename: Joo-Cheol
authors.initials: JC
authors.lastname: Park
authors.forename: Kyung-Eun
authors.initials: KE
authors.lastname: Lee
authors.forename: Myoung-Hwa
authors.initials: MH
authors.lastname: Lee
authors.forename: Jong-Tae
authors.initials: JT
authors.lastname: Park
authors.forename: Byoung-Moo
authors.initials: BM
authors.lastname: Seo
authors.forename: Jan C-C
authors.initials: JC
authors.lastname: Hu
authors.forename: James P
authors.initials: JP
authors.lastname: Simmer
mesh_terms: D000567:Amelogenesis Imperfecta / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D018389:Codon, Nonsense / Q000235:genetics; D017931:DNA Primers / Q000235:genetics; D006801:Humans; D017403:In Situ Hybridization; D008126:Lod Score; D008969:Molecular Sequence Data; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017422:Sequence Analysis, DNA
chemical_list: D018389:Codon, Nonsense; D017931:DNA Primers; C527308:FAM83H protein, human; D011506:Proteins