Phenotypic variability in LAMA3-associated amelogenesis imperfecta.

ABSTRACT:

Objective

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.

Materials and methods

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

Results

The predominant enamel phenotype was generalized thin enamel with defective pits and grooves. Horizonal bands of hypoplastic enamel with chalky-white discoloration and enamel h

SUBMITTER: Wang SK 

PROVIDER: S-EPMC10154430 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature