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Related Concept Videos

Mutations01:39

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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
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FAM20A Gene Mutation: Amelogenesis or Ectopic Mineralization?

Guilhem Lignon1, Fleur Beres1, Mickael Quentric1

  • 1Molecular Oral Pathophysiology, Cordeliers Research Center, UMRS 1138 Institut National de la Santé et de la Recherche Médicale, Paris-Descartes, Pierre-et-Marie-Curie, Paris-Diderot UniversitiesParis, France.

Frontiers in Physiology
|May 19, 2017
PubMed
Summary

Mutations in the FAM20A gene cause enamel renal syndrome, leading to abnormal enamel structure and composition due to impaired mineralization. This study reveals ectopic mineralization patterns in ERS patient enamel.

Keywords:
FAM20Aamelogenesis imperfectamatrix biologymineralrare disease

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Area of Science:

  • Biomineralization research
  • Dental enamel structure and composition
  • Genetic disorders affecting tooth development

Background:

  • FAM20A gene mutations cause enamel renal syndrome (ERS), characterized by amelogenesis imperfecta, nephrocalcinosis, and gingival fibromatosis.
  • FAM20A is crucial for enamel peptide phosphorylation and mineralization.
  • ERS patients exhibit impaired tooth eruption and abnormal enamel development.

Purpose of the Study:

  • To characterize the structure and chemical composition of unerupted tooth enamel in ERS patients.
  • To compare ERS enamel with that of healthy subjects.
  • To elucidate the mineralization mechanisms in ERS.

Main Methods:

  • Scanning Electron Microscopy (SEM) for ultrastructural analysis.
  • Energy Dispersive Spectroscopy (EDS), X-Ray Diffraction (XRD), and X-Ray Fluorescence (XRF) for chemical composition and crystallinity.
  • Analysis of unerupted tooth sections from ERS patients and healthy controls.

Main Results:

  • ERS enamel showed restricted prisms, lamellar and micronodular layers, and increased porosity with nanonodules.
  • Ultrastructural globular patterns, similar to ectopic mineralization, were observed in ERS enamel.
  • XRD revealed altered crystallinity and composition; XRF and EDS indicated reduced calcium and phosphorus levels in ERS enamel.

Conclusions:

  • Amelogenesis in ERS patients initiates normally but deviates, forming bulk enamel via nano- to micro-nodule aggregation.
  • This process resembles ectopic mineralization seen in soft tissues of FAM20A mutants.
  • The findings highlight a novel mineralization pathway in genetic enamel defects.