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Amelogenesis imperfecta (AI) is defined as inherited enamel malformations. LAMA3 (laminin alpha‐3) encodes a critical protein component of the basement membrane (laminin‐332). Individuals carrying heterozygous LAMA3 mutations have previously been shown to have localized enamel defects. This study aimed to define clinical phenotypes and to discern the genetic etiology for four AI kindreds.

Whole‐exome analyses were conducted to search for sequence variants associated with the disorder, and micro‐computed tomography (μCT) to characterize the enamel defects.

The predominant enamel phenotype was generalized thin enamel with defective pits and grooves. Horizonal bands of hypoplastic enamel with chalky‐white discoloration and enamel hypomineralization were also observed and demonstrated by μCT analyses of affected teeth. Four disease …