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 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.
Kim
Jung-Wook
JW
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
Lee
Sook-Kyung
SK
Lee
Zang Hee
ZH
Park
Joo-Cheol
JC
Lee
Kyung-Eun
KE
Lee
Myoung-Hwa
MH
Park
Jong-Tae
JT
Seo
Byoung-Moo
BM
Hu
Jan C-C
JC
Simmer
James P
JP
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
D018389:Codon, Nonsense; D017931:DNA Primers; C527308:FAM83H protein, human; D011506:Proteins