Genetic, clinical and molecular analysis of a family affected by amelogenesis imperfecta;Análisis genético, clínico y molecular de una familia afectada con una malformación del esmalte dental

Revista Medica de Chile

Volumn 133, Issue 11, 2005, Pages 1331-1340

  Urzúa O, Blanca ^a   Ortega P, Ana ^a   Rodríguez M, Luis ^b   Morales B, Irene ^a  

^a UNIVERSITY OF CHILE   (Chile)

^b NONE

Author keywords

Amelogenesis imperfecta; Dental enamel hypoplasia; Mutation

Indexed keywords

ENAMEL PROTEIN;

ADULT; AGED; ARTICLE; CASE CONTROL STUDY; DOMINANT GENE; ENAMEL HYPOPLASIA; FEMALE; GENETICS; HUMAN; MALE; MUTATION; PEDIGREE; PHENOTYPE; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; RADIOGRAPHY;

ADULT; AGED; CASE-CONTROL STUDIES; DENTAL ENAMEL HYPOPLASIA; DENTAL ENAMEL PROTEINS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FEMALE; GENES, DOMINANT; HUMANS; MALE; MUTATION; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION;

EID: 31144449914     PISSN: 00349887     EISSN: 07176163     Source Type: Journal    
DOI: None     Document Type: Article

References (43)

1. TEN CATE AR. Oral Histology. Development, structure, and function. Editorial Mosby, 1998; 197-217.
2. GÓMEZ DE FERRARIS ML, CAMPOS A. Histología y embriología bucodentaria. Editorial Médica Panamericana 2002; 271-315.
3. SIMMER JP, FINCHAM AG. Molecular mechanism of dental enamel formation. Crit Rev Oral Biol Med 1995; 6: 84-108.
4. BROOKES SJ, ROBINSON C, KIRKHAM J, BONASS WA. Biochemistry and molecular biology of amelogenin proteins of developing dental enamel. Archs Oral Biol 1995; 40: 1-14.
5. ROBINSON C, BROOKES SJ, SHORE RC, KIRKHAM J. The developing enamel matrix: nature and function. Eur J Oral Sci 1998; 106 (suppl 1): 282-91.
6. BARTLETT JD, SIMMER JP, XUE J, MARGOLIS HC, MORENO EC. Molecular cloning and mRNA tissue distribution of a novel matrix metalloproteinase isolated from porcine enamel organ. Gene 1996; 183: 123-8.
7. SIMMER JP, FUKAE M, TANABE T, YAMAKOSHI YM, UCHIDA T, XUE J ET AL. Purification, characterization and cloning of enamel matrix serine proteinase 1. J Dent Res 1998; 77: 377-86.
8. NEVILLE B, DAMM D, ALLEN C, BOUQUOT J. Oral and maxillofacial pathology. Editorial W.B. Saunders Company 1995; 49-89.
9. SAPP P, EVERSOLE L, WYSOCKI G. Patología oral y Maxilofacial Contemporánea. Editorial Harcourt Brace, España, 1998; 1-37.
10. ALDRED MJ, SAVARIRAYAN R, CRAWFORD PJM. Amelogenesis imperfecta: a classification and catalogue for the 21 st century. Oral Dis 2003; 9: 19-23.
11. BÄCKMAN B, HOLMGREN G. Amelogenesis imperfecta: A genetic study. Hum Hered 1988; 38: 189-206.
12. ALDRED MJ, CRAWFORD PJM, ROBERTS E, GILLESPIE CM, THOMAS NST, FENTON I ET AL. Genetic heterogeneity in X-linked amelogenesis imperfecta. Genomics 1992; 4: 567-73.
13. LAGERSTRÖM-FREMÉR M, DHAL N, ISELIUS L, BÄCKMAN B, PETTERSSON U. Mapping of the gene for X-linked amelogenesis imperfecta by linkage analysis. Am J Hum Genet 1990; 46: 120-5.
14. SALIDO EC, YEN PH, KOPRIVNIKAR K, YU L-C, SHAPIRO LJ. The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes. Am J Hum Genet 1992; 50: 303-16.
15. HART PS, MICHALEC MD, SEOW WK, HART TC, WRIGHT JT. Identification of the enamelin (g.8344delG) mutation in new kindred and presentation of standardized ENAM nomenclature. Archs Oral Biol 2003; 48: 589-96.
16. NUSIER M, YASSIN O, HART TC, SAMIMI A, WRIGHT JT. Phenotypic diversity and revision of the nomenclature for autosomal recessive amelogenesis imperfecta. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2004; 97: 220-30.
17. WRIGHT JT, HART PS, ALDRED MJ, SEOW K, CRAWFORD PJM, HONG SP ET AL. Relationship of phenotype and genotype in X-linked amelogenesis imperfecta. Connect Tissue Res 2003; 44 (Suppl): 72-8.
18. HU JC-C, YAMAKOSHI Y. Enamelin and autosomal-dominant amelogenesis imperfecta. Crit Rev Oral Biol Med 2003; 14: 387-98.
19. ALDRED MJ, CRAWFORD PJM, ROBERTS E, THOMAS NST. Identification of a nonsense mutation in the amelogenin gene (AMELX) in a family with X-linked Amelogenesis imperfecta (AIH1). Hum Genet 1992; 90: 413-6.
20. COLLIER PM, SAUK JJ, ROSENBLOOM J, YUAN ZA, GIBSON CW. An amelogenin gene defect associated with human X-linked amelogenesis imperfecta. Archs Oral Biol 1997; 42: 235-42.
21. HART S, HART T, GIBSON C, WRIGHT JT. Mutacional analysis of X-linked amelogenesis imperfecta in multiple families. Archs Oral Biol 2000; 45: 79-86.
22. HART PS, HART TC, SIMMER JP, WRIGHT JT. A nomenclature for X-linked amelogenesis imperfecta. Arch Oral Biol 2002; 47: 255-60.
23. HART PS, ALDRED MJ, CRAWFORD PJM, WRIGHT NJ, HART TC, WRIGHT JT. Two amelogenin gene mutations cause different amelogenesis imperfecta phenotypes. Arch Oral Biol 2002; 47: 261-5.
24. KINDELAN SA, BROOK AH, GANGEMI L, LENCH N, WONG FSL, FEARNE J ET AL. Detection of a novel mutation in X-linked amelogenesis imperfecta. J Dent Res 2000; 79: 1978-82.
25. LAGERSTRÖM-FERMÉR M, DHAL N, NAKAHORI Y, MAKAGOME Y, BÄCKMAN B, LANDEGREN U ET AL. A deletion in the amelogenin gene (AMG) causes X-linked Amelogenesis imperfecta (AIH1). Genomics 1991; 10: 971-5.
26. LAGERSTRÖM-FERMÉR M, NILSSON MBJ, BÄCKMAN B, SHAPIRO LJ, PETTERSSON U, LANDEGREN U. Amelogenin signal peptide mutation: Correlation between mutation in the amelogenin gene (AMGX) and manifestations of X-linked Amelogenesis imperfecta. Genomics 1995; 26: 159-62.
27. LENCH NJ, BROOK AH, WINTER GB. SSCP detection of a nonsense mutation in exon 5 of the amelogenin gene (AMGX) causing X-linked amelogenesis imperfecta (AIH1). Hum Mol Genet 1994; 3: 827-8.
28. LENCH NJ, BROOK AH. DNA diagnosis of X-linked amelogenesis imperfecta (AIH1). J Oral Pathol Med 1997; 26: 135-7.
29. RAVASSIPOUR DB, HART PS, HART TC, RITTER AV, YAMAUCHI M, GIBSON C ET AL. Unique enamel phenotype associated with amelogenin gene (AMELX) codon 41 point mutation. J Dent Res 2000; 79: 1476-81.
30. KIM J-W, SIMMER JP, HU YY, LIN BP-L, BOYD C, WRIGTH JT ET AL. Amelogenin p.M1T and p.W4S mutations underlaying hipoplastic X-linked amelogenesis imperfecta. J Dent Res 2004; 83: 378-83.
31. HART PS, HART TC, MICHALEC MD, RYU OH, SIMMONS D, HONG S ET AL. Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta. J Med Genet 2004; 41: 545-9.
32. KIM J-W, SIMMER JP, HART TC, HART PS, RAMASWAMI MD, BARTLETT JD ET AL. MMP-20 mutation in autosomal recesive pigmented hypomaturation amelogenesis imperfecta. J Med Genet 2005; 42: 271-5.
33. RAJPAR HM, HARLEY K, LAING C, DAVIES RM, DIXON MJ. Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta. Hum Mol Genet 2001; 10: 1673-7.
34. MÅRDH CK, BÄCKMAN B, HOLMGREN G, HU JC-C, SIMMER JP, FÖRSMAN-SEMB K. A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2). Hum Mol Genet 2002; 11: 1069-74.
35. KIDA M, ARIGA T, SHIRAKAWA T, OGUCHI H, SAKIYAMA Y. Autosomal-dominant hypoplastic form of amelogenesis imperfecta caused by an enamelin gene mutation at the exon-intron boundary. J Dent Res 2002; 81: 738-42.
36. KIM J-W, SEYMEN F, LIN BP-J, KIZILTAN B, GENCAY K, SIMMER JP ET AL. ENAM mutations in autosomal dominant amelogenesis imperfecta. J Dent Res 2005; 84: 278-82.
37. HART TC, HART PS, GORRY MC, MICHALEC MD, RYU OH, UYGUR C ET AL. Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects. J Med Genet 2003; 40: 900-6.
38. PROGENY 5 (www.progeny2000.com)
39. WITKOP CJ. Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. J Oral Pathol 1989; 17: 547-53.
40. SAMBROOK JF, MANIATIS T. Molecular Cloning: A laboratory manual. Cold Spring Harbor Laboratory Press, 1989; 6.3-6.60.
41. BOYLE JS, LEW AM. An inexpensive alternative to glass milk for DNA purification. Trends in Genetics 1995; 11: 6-7.
42. Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore. MIM number: {23/3/2004}: {300391}. World wide web URL: http://www.ncbi.nlm.nih.gov/omim/.
43. SUNDELL S, VALENTIN J. Hereditary aspects and classification of hereditary amelogenesis imperfecta. Community Dent Oral Epidemiol 1986; 14: 211-6.