Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature

Hart, P. S., Michalec, M. D., Seow, W. K., Hart, T. C. and Wright, J. T. (2003) Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature. Archives of Oral Biology, 48 8: 589-596.


Author(s) Hart, P. S.
Michalec, M. D.
Seow, W. K.
Hart, T. C.
Wright, J. T.
Title Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature
Journal name Archives of Oral Biology
Publication date 2003
Sub-type Article
Volume number 48
Issue number 8
ISSN 0003-9969
Start page 589
End page 596
Total pages 8
Editor(s) G. R. Holland
P. M. Speight
Place of publication UK
Publisher Pergamon
Collection year 2003
Language eng
Subject C1
320899 Dentistry not elsewhere classified
730112 Oro-dental and disorders
Abstract The amelogenesis imperfectas (Al) area geneticatly heterogeneous group of diseases that result in defective development of tooth enamel. Although X-linked, autosomal. dominant and autosomal. recessive forms of Al have been clinically characterized, only two genes (AMELX and ENAM) have been associated with Al. To date, three enamelin (ENAM) mutations have been identified. These mutations cause phenotypically diverse forms of autosomal. dominant Al. Detailed phenotype-genotype correlations have not been performed for autosomal. dominant Al due to ENAM mutations. We identified a previously unreported kindred segregating for the ENAM mutation, g.8344delG. Light and electron microscopy analyses of unerupted permanent teeth show the enamel is markedly reduced in thickness, Lacks a prismatic structure and has a laminated appearance. Taken together these histological features support the enamelin protein as being critical for the development of a normal. enamel. thickness and that it Likely has a role in regulating c-axis crystallite growth. Because there is growing molecular and phenotypic diversity in the enamelin defects, it is critical to have a nomenclature and numbering system for characterizing these conditions. We present a standardized nomenclature for ENAM mutations that will allow consistent reporting and communication. (C) 2003 Elsevier Science Ltd. All rights reserved.
Keyword(s) Dentistry, Oral Surgery & Medicine
Enamelin
Enamel
Mutation
Hypoplastic
Amelogenesis Imperfecta
Linked Amelogenesis Imperfecta
Open-bite
Gene
Ultrastructure
Protein
Localization
Expression
Cloning
Mouse
 
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