CACNA1S mutation-associated dental anomalies: A calcium channelopathy.

ABSTRACT:

Objectives

To identify the molecular etiology of distinct dental anomalies found in eight Thai patients and explore the mutational effects on cellular functions.

Materials and methods

Clinical and radiographic examinations were performed for eight patients. Whole exome sequencing, mutant protein modelling, qPCR, western blot analysis, scratch assays, immunofluorescence, confocal analysis, in situ hybridization, and scanning electron micrography of teeth were done.

Results

All patients had molars with multiple supernumerary cusps, single-cusped premolars, and a reduction in root number. Mutation analysis highlighted a heterozygous c.865A>G; p.Ile289Val mutation in CACNA1S in the patients. CACNA1S is a component of the slowly inactivating L-type voltage-dependent calciu

SUBMITTER: Kantaputra P 

PROVIDER: S-EPMC11229413 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature