Relationship of Phenotype and Genotype in X-Linked Amelogenesis Imperfecta

@article{Wright2003RelationshipOP,
  title={Relationship of Phenotype and Genotype in X-Linked Amelogenesis Imperfecta},
  author={J. Tim Wright and P. Suzanne Hart and Michael J. Aldred and Kim Seow and Peter J. M. Crawford and S. P. Hong and Carolyn W. Gibson and Thomas C. Hart},
  journal={Connective Tissue Research},
  year={2003},
  volume={44},
  pages={72 - 78}
}
X-linked amelogenesis imperfectas (AI) resulting from mutations in the amelogenin gene (AMELX) are phenotypically and genetically diverse. Amelogenin is the predominant matrix protein in developing enamel and is essential for normal enamel formation. To date, 12 allelic AMELX mutations have been described that purportedly result in markedly different expressed amelogenin protein products. We hypothesize that these AMELX gene mutations result in unique and functionally altered amelogenin… Expand
Amelogenin p.M1T and p.W4S Mutations Underlying Hypoplastic X-linked Amelogenesis Imperfecta
TLDR
The severity of the enamel phenotype correlated with the predicted effects of the mutations on amelogenin expression and secretion, and the results improved the clinical diagnosis of X-linked amelogenesis imperfecta (AI). Expand
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Amelogenesis imperfecta (AI) is a heterogeneous group of genetic disorders with regard to genetic aetiology and clinical phenotype and affects tooth enamel with no other non-oral syndromicExpand
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A Novel AMELX Mutation, Its Phenotypic Features, and Skewed X Inactivation
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This study provides one of the few phenotypic comparisons of hemizygous and homozygous AMELX mutations and suggests that the skewing of X inactivation in AI contributes to the phenotypesic variations in heterozygous carriers of X-linked AI. Expand
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Mice carrying a Y64H amelogenin mutation phenotypically mimic human amelogenesis imperfecta. Affected ameloblasts are characterised by the presence of abnormal cytoplasmic vesicles of retainedExpand
The molecular etiologies and associated phenotypes of amelogenesis imperfecta
  • J. T. Wright
  • Biology, Medicine
  • American journal of medical genetics. Part A
  • 2006
TLDR
The current knowledge of the known mutations and associated phenotypes of the different AI subtypes are reviewed and provide an opportunity to better understand the role of these genes and their related proteins in enamel formation. Expand
Defining a New Candidate Gene for Amelogenesis Imperfecta: From Molecular Genetics to Biochemistry
TLDR
This review provides theoretical evidence that the human SLC4A4 gene (sodium bicarbonate cotransporter) may be a new candidate gene for amelogenesis imperfecta and refocus the search for candidate genes using biochemical processes. Expand
ENAM Mutations in Autosomal-dominant Amelogenesis Imperfecta
TLDR
To improve the understanding of the roles of enamelin in normal enamel formation, and to gain information related to possible genotype/phenotype correlations, 2 ENAM mutations in kindreds with hypoplastic ADAI, 1 novel and 1 previously identified, are identified, and the resulting enamel phenotypes are characterized. Expand
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