A Mutation in CACNA1S Is Associated with Multiple Supernumerary Cusps and Root Maldevelopment.

ABSTRACT:

Background

Enamel knots and Hertwig epithelial root sheath (HERS) regulate the growth and folding of the dental epithelium, which subsequently determines the final form of tooth crown and roots. We would like to investigate the genetic etiology of seven patients affected with unique clinical manifestations, including multiple supernumerary cusps, single prominent premolars, and single-rooted molars.

Methods

Oral and radiographic examination and whole-exome or Sanger sequencing were performed in seven patients. Immunohistochemical study during early tooth development in mice was performed.

Results

A heterozygous variant (c. 865A>G; p.Ile289Val) in CACNA1S was identified in all the patients, but not in an unaffected family member and control. Immunohistochemical

SUBMITTER: Kantaputra P 

PROVIDER: S-EPMC10000453 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature