ArticleOral diseases2024
CACNA1S mutation-associated dental anomalies: A calcium channelopathy.
Article in Oral diseases, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 8 citations in OpenAlex.
- A missense variant in ASCL5 leads to lobodontia.Nature communications · 2026Article
- Lobodontia-Affected Teeth Exhibit Compromised Integrity and Enamel Defects: A Deep Phenotyping Study.Oral diseases · 2025Article
- Genetic analysis of non-syndromic peg lateralis using whole-exome sequencing.Frontiers in genetics · 2025Article
- Expanding the Phenotype of the CACNA1C-Associated Neurological Disorders in Children: Systematic Literature Review and Description of a Novel Mutation.Children (Basel, Switzerland) · 2024Review
- Identification of novel candidate genes associated with non-syndromic tooth agenesis in Mongolian families.Clinical oral investigations · 2023Article
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Authors and funding
16 authors at 9 institutions in 4 countries.
Funding
Abstract
objectivesTo identify the molecular etiology of distinct dental anomalies found in eight Thai patients and explore the mutational effects on cellular functions. MATERIALS AND
methodsClinical 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.
resultsAll 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 calcium channel. Mutant protein modeling suggested that the mutation might allow leakage of Ca
conclusionsThe malformations observed in our patients suggest a role for calcium signaling in organization of both cusps and roots, affecting cell dynamics within the dental epithelium.
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Registered trials
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