Candidate gene strategy reveals ENAM mutations

Journal of Dental Research

Volumn 88, Issue 3, 2009, Pages 266-269

  Kang, H Y ^a   Seymen, F ^b   Lee, S K ^a   Yildirim, M ^b   Bahar Tuna, E ^b   Patir, A ^b   Lee, K E ^a   Kim, J W ^a,c,d  

^a Seoul National University   (South Korea)

^b ISTANBUL UNIVERSITY   (Turkey)

^c School of Dentistry   (South Korea)

^d Dental Genetics Laboratory   (South Korea)

Author keywords

Amelogenesis imperfecta; ENAM; Enamel; Enamelin; Tooth

Indexed keywords

ADENINE; DISTAL LESS HOMEOBOX PROTEINS; DISTAL-LESS HOMEOBOX PROTEINS; ENAMEL PROTEIN; GUANINE; HOMEODOMAIN PROTEIN; THYMINE; TRANSCRIPTION FACTOR; TUFTELIN;

AMELOGENESIS IMPERFECTA; AMINO ACID SEQUENCE; ARTICLE; DOMINANT GENE; ENAMEL HYPOPLASIA; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE EXPRESSION REGULATION; GENETICS; HOMOZYGOTE; HUMAN; INTRON; MALE; RECESSIVE GENE; STOP CODON;

ADENINE; AMELOGENESIS IMPERFECTA; AMINO ACID SEQUENCE; CODON, NONSENSE; DENTAL ENAMEL HYPOPLASIA; DENTAL ENAMEL PROTEINS; EXONS; FEMALE; FRAMESHIFT MUTATION; GENES, DOMINANT; GENES, RECESSIVE; GUANINE; HOMEODOMAIN PROTEINS; HOMOZYGOTE; HUMANS; INTRONS; MALE; MUTAGENESIS, INSERTIONAL; SEQUENCE DELETION; THYMINE; TRANSCRIPTION FACTORS;

EID: 65349093351     PISSN: 00220345     EISSN: None     Source Type: Journal    
DOI: 10.1177/0022034509333180     Document Type: Article

References (24)

1. Dong J, Amor D, Aldred MJ, Gu T, Escamilla M, MacDougall M (2005). DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism. Am J Med Genet A 133:138-141. (Pubitemid 40279779)
2. Gutierrez SJ, Chaves M, Torres DM, Briceno I (2007). Identification of a novel mutation in the enamelin gene in a family with autosomal-dominant amelogenesis imperfecta. Arch Oral Biol 52:503-506. (Pubitemid 46399641)
3. Hart PS, Michalec MD, Seow WK, Hart TC, Wright JT (2003). Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature. Arch Oral Biol 48:589-596.
4. Hart PS, Hart TC, Michalec MD, Ryu OH, Simmons D, Hong S, et al. (2004). Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta. J Med Genet 41:545-549. (Pubitemid 38932116)
5. Hart TC, Hart PS, Gorry MC, Michalec MD, Ryu OH, Uygur C, et al. (2003). Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects. J Med Genet 40:900-906. (Pubitemid 38117540)
6. Hu JC, Simmer J (2007). Developmental biology and genetics of dental malformations. Orthod Craniofac Res 10:45-52.
7. Hu JC, Yamakoshi Y, Yamakoshi F, Krebsbach PH, Simmer JP (2005). Proteomics and genetics of dental enamel. Cells Tissues Organs 181:219-231.
8. Kida M, Ariga T, Shirakawa T, Oguchi H, Sakiyama Y (2002). Autosomal-dominant hypoplastic form of amelogenesis imperfecta caused by an enamelin gene mutation at the exon-intron boundary. J Dent Res 81:738-742.
9. Kida M, Sakiyama Y, Matsuda A, Takabayashi S, Ochi H, Sekiguchi H, et al. (2007). A novel missense mutation (p.P52R) in amelogenin gene causing X-linked amelogenesis imperfecta. J Dent Res 86:69-72.
10. Kim JW, Simmer JP, Hu YY, Lin BP, Boyd C, Wright JT, et al. (2004). Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta. J Dent Res 83:378-383. (Pubitemid 41766092)
11. Kim JW, Seymen F, Lin BP, Kiziltan B, Gencay K, Simmer JP, et al. (2005a). ENAM mutations in autosomal-dominant amelogenesis imperfecta. J Dent Res 84:278-282. (Pubitemid 43822038)
12. Kim JW, Simmer JP, Hart TC, Hart PS, Ramaswami MD, Bartlett JD, et al. (2005b). MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta. J Med Genet 42:271-275. (Pubitemid 40380310)
13. Kim JW, Simmer JP, Lin BP, Seymen F, Bartlett JD, Hu JC (2006). Mutational analysis of candidate genes in 24 amelogenesis imperfecta families. Eur J Oral Sci 114(Suppl 1):3-12.
14. Kim JW, Lee SK, Lee ZH, Park JC, Lee KE, Lee MH, et al. (2008). FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta. Am J Hum Genet 82:489-494.
15. Lee SK, Hu JC, Bartlett JD, Lee KE, Lin BP, Simmer JP, et al. (2008a). Mutational spectrum of FAM83H: the C-terminal portion is required for tooth enamel calcification. Hum Mutat 29:E95-E99.
16. Lee SK, Lee ZH, Lee SJ, Ahn BD, Kim YJ, Lee SH, et al. (2008b). DLX3 mutation in a new family and its phenotypic variations. J Dent Res 87:354-357.
17. Ozdemir D, Hart PS, Ryu OH, Choi SJ, Ozdemir-Karatas M, Firatli E, et al. (2005a). MMP20 active-site mutation in hypomaturation amelogenesis imperfecta. J Dent Res 84:1031-1035. (Pubitemid 43828151)
18. Ozdemir D, Hart PS, Firatli E, Aren G, Ryu OH, Hart TC (2005b). Phenotype of ENAM mutations is dosage-dependent. J Dent Res 84:1036-1041.
19. Papagerakis P, Lin HK, Lee KY, Hu Y, Simmer JP, Bartlett JD, et al. (2008). Premature stop codon in MMP20 causing amelogenesis imperfecta. J Dent Res 87:56-59.
20. Pavlic A, Petelin M, Battelino T (2007). Phenotype and enamel ultrastructure characteristics in patients with ENAM gene mutations g.13185-13186insAG and 8344delG. Arch Oral Biol 52:209-217. (Pubitemid 46096434)
21. Price JA, Wright JT, Kula K, Bowden DW, Hart TC (1998). A common DLX3 gene mutation is responsible for tricho-dento-osseous syndrome in Virginia and North Carolina families. J Med Genet 35:825-828. (Pubitemid 28431701)
22. Witkop CJ Jr (1988). Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. J Oral Pathol 17:547-553.
23. Wright JT (2006). The molecular etiologies and associated phenotypes of amelogenesis imperfecta. Am J Med Genet A 140:2547-2555.
24. Wright JT, Kula K, Hall K, Simmons JH, Hart TC (1997). Analysis of the tricho-dento-osseous syndrome genotype and phenotype. Am J Med Genet 72:197-204. (Pubitemid 27426087)