2. Academic Validation
  3. FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta

FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta

  • Am J Hum Genet. 2008 Feb;82(2):489-94. doi: 10.1016/j.ajhg.2007.09.020.
Jung-Wook Kim 1,  Sook-Kyung Lee,  Zang Hee Lee,  Joo-Cheol Park,  Kyung-Eun Lee,  Myoung-Hwa Lee,  Jong-Tae Park,  Byoung-Moo Seo,  Jan C-C Hu,  James P Simmer
Affiliations

Affiliation

  • 1 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
PMID: 18252228 DOI: 10.1016/j.ajhg.2007.09.020
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.

Figures