Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta.

ABSTRACT:

Background

Amelogenesis imperfecta (AI) is a developmental enamel defect affecting the structure of enamel, esthetic appearance, and the tooth masticatory function. Gene mutations are reported to be relevant to AI. However, the mechanism underlying AI caused by different mutations is still unclear. This study aimed to reveal the molecular pathogenesis in AI families with 2 novel pre-mRNA splicing mutations.

Methods

Two Chinese families with AI were recruited. Whole-exome sequencing and Sanger sequencing were performed to identify mutations in candidate genes. Minigene splicing assays were performed to analyze the mutation effects on mRNA splicing alteration. Furthermore, three-dimensional structures of mutant proteins were predicted by AlphaFold2 to evaluate the detrimental

SUBMITTER: Zhang Z 

PROVIDER: S-EPMC10662561 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature