Identification of a novel FAM83H mutation and microhardness of an affected molar in autosomal dominant hypocalcified amelogenesis imperfecta

International Endodontic Journal

Volumn 42, Issue 11, 2009, Pages 1039-1043

  Hyun, H K ^a   Lee, S K ^b   Lee, K E ^b   Kang, H Y ^b   Kim, E J ^b   Choung, P H ^b   Kim, J W ^a,b  

^a Seoul National University   (South Korea)

^b School of Dentistry   (South Korea)

Author keywords

Amelogenesis imperfect; Dentin; Enamel; FAM83H; Microhardness; Mutation

Indexed keywords

ENAMEL PROTEIN; FAM83H PROTEIN, HUMAN; PROTEIN;

AMELOGENESIS IMPERFECTA; ARTICLE; DENTAL CARE; DOMINANT GENE; ENAMEL; FEMALE; GENETICS; HARDNESS; HUMAN; MOLAR TOOTH; NUCLEOTIDE SEQUENCE; PATHOLOGY; PRESCHOOL CHILD; STOP CODON; TOOTH DEVELOPMENT;

AMELOGENESIS; AMELOGENESIS IMPERFECTA; CHILD, PRESCHOOL; CODON, NONSENSE; DENTAL ENAMEL; DENTAL ENAMEL PROTEINS; DENTAL STRESS ANALYSIS; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, DOMINANT; HARDNESS; HUMANS; MOLAR; PROTEINS; TOOTH CALCIFICATION;

EID: 70349850806     PISSN: 01432885     EISSN: 13652591     Source Type: Journal    
DOI: 10.1111/j.1365-2591.2009.01617.x     Document Type: Article

References (12)

1. Hart TC, Hart PS, Gorry MC et al. (2003) Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects. Journal of Medical Genetics 40, 900 906.
2. Hart PS, Hart TC, Michalec MD et al. (2004) Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta. Journal of Medical Genetics 41, 545 549.
3. Hart PS, Becerik S, Cogulu D et al. (2009) Novel FAM83H mutations in Turkish families with autosomal dominant hypocalcified amelogenesis imperfecta. Clinical Genetics 75, 401 404.
4. Hu JC, Chun YH, Al Hazzazzi T, Simmer JP (2007) Enamel formation and amelogenesis imperfecta. Cells, Tissues, Organs 186, 78 85.
5. Kim JW, Simmer JP, Hu YY et al. (2004) Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta. Journal of Dental Research 83, 378 383.
6. Kim JW, Simmer JP, Hart TC et al. (2005) MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta. Journal of Medical Genetics 42, 271 275.
7. Kim JW, Simmer JP, Lin BP, Seymen F, Bartlett JD, Hu JC (2006) Mutational analysis of candidate genes in 24 amelogenesis imperfecta families. European Journal of Oral Science 114 (Suppl. 1 3 12. discussion 39-41, 379.
8. Kim JW, Lee SK, Lee ZH et al. (2008) FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta. American Journal of Human Genetics 82, 489 494.
9. Lee SK, Hu JC, Bartlett JD et al. (2008) Mutational spectrum of FAM83H: the C-terminal portion is required for tooth enamel calcification. Human Mutation 29, E95 9.
10. Tan JT, Kremer F, Freddi S et al. (2008) Competency for nonsense-mediated reduction in collagen X mRNA is specified by the 3′ UTR and corresponds to the position of mutations in Schmid metaphyseal chondrodysplasia. American Journal of Human Genetics 82, 786 793.
11. Witkop CJ Jr. (1988) Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. Journal of Oral Pathology 17, 547 553.
12. Wright JT, Daly B, Simmons D et al. (2006) Human enamel phenotype associated with amelogenesis imperfecta and a kallikrein-4 (g.2142G>A) proteinase mutation. European Journal of Oral Science 114 (Suppl. 1 13 7. discussion 39-41, 379.