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FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta |
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| Authors: | Kim Jung-Wook Lee Sook-Kyung Lee Zang Hee Park Joo-Cheol Lee Kyung-Eun Lee Myoung-Hwa Park Jong-Tae Seo Byoung-Moo Hu Jan C-C Simmer James P |
| Affiliation: | 1 Department of Cell and Developmental Biology and Dental Research Institute, School of Dentistry, Seoul National University, 275-1 Yongon-dong, Chongno-gu, Seoul 110-768, Korea 2 Department of Pediatric Dentistry & Dental Research Institute, School of Dentistry, Seoul National University, 275-1 Yongon-dong, Chongno-gu, Seoul 110-768, Korea 3 Department of Oral and Maxillofacial Surgery and Dental Research Institute, School of Dentistry, Seoul National University, 275-1 Yongon-dong, Chongno-gu, Seoul 110-768, Korea 4 Department of Oral Histology, College of Dentistry, Chosun University, 375 Seosug-dong, Dong-gu, Gwang-Ju, 501-759, Korea 5 Department of Biologic and Materials Sciences, University of Michigan Dental Research Lab, 1210 Eisenhower Place, Ann Arbor, MI 48108, USA |
| 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. |
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