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In humans, the five forms of alpha chains are LAMA 1, LAMA 2, LAMA 3, LAMA 4, and LAMA 5. The four forms of beta chains are LAMB 1, LAMB 2, LAMB 3, and LAMB 4. The three forms of gamma...
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Updated: Aug 23, 2025

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Phenotypic variability in LAMA3-associated amelogenesis imperfecta.

Shih-Kai Wang1,2, Hong Zhang3, Yin-Lin Wang1,2

  • 1Department of Dentistry, National Taiwan University School of Dentistry, Taipei City, Taiwan.

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|November 3, 2022
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Summary

Genetic mutations in LAMA3 cause inherited enamel malformations, known as amelogenesis imperfecta (AI). This study identified novel LAMA3 mutations linked to generalized enamel defects, highlighting laminin-332

Keywords:
MMP20computed tomographydental enameljunctional epidermolysis bullosalamininmutation

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Area of Science:

  • Genetics
  • Biochemistry
  • Dentistry

Background:

  • Amelogenesis imperfecta (AI) encompasses inherited enamel malformations.
  • LAMA3 encodes laminin alpha-3, a key basement membrane protein (laminin-332).
  • Previous studies linked heterozygous LAMA3 mutations to localized enamel defects.

Purpose of the Study:

  • To define clinical phenotypes of AI in four kindreds.
  • To identify the genetic basis of AI in these families.
  • To investigate the role of LAMA3 in enamel formation.

Main Methods:

  • Whole-exome sequencing to identify genetic variants.
  • Micro-computed tomography (μCT) to analyze enamel structure.
  • Clinical phenotyping of affected individuals.

Main Results:

  • Identified four novel disease-causing LAMA3 mutations.
  • Observed generalized thin enamel with pits, grooves, hypoplastic bands, and hypomineralization.
  • Found compound heterozygous MMP20 mutations in one patient, suggesting synergistic effects.
  • LAMA3 isoforms α3A and α3B are crucial for enamel formation.

Conclusions:

  • Heterozygous LAMA3 mutations cause generalized enamel defects (AI1A) with variable expressivity.
  • Laminin-332 is essential for both enamel apposition and maturation.
  • Genetic analysis provides insights into AI etiology and pathogenesis.