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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning

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Haushalter, Virginie | Morkmued, Supawich | Stoetzel, Corinne | Geoffroy, Véronique | Muller, Jean | Boland, Anne | Deleuze, Jean-François | Chennen, Kirsley | Pitiphat, Waranuch | Dollfus, Helene | Niederreither, Karen | Bloch-Zupan, Agnès | Pungchanchaikul, Patimaporn

Edité par CCSD ; Frontiers -

In this study, we report a unique dominantly inherited disorganized supernumerary cusp and single root phenotype presented by 11 affected individuals belonging to 5 north-eastern Thai families. Using whole exome sequencing (WES) we identified a common single missense mutation that segregates with the phenotype in exon 6 of CACNA1S (Cav1.1) (NM_000069.2: c.[865A > G];[=] p.[Ile289Val];[=]), the Calcium Channel, Voltage-Dependent, L Type, Alpha-1s Subunit, OMIM ∗ 114208), affecting a highly conserved amino-acid isoleucine residue within the pore forming subdomain of CACNA1S protein. This is a strong genetic evidence that a voltage-dependent calcium ion channel is likely to play a role in influencing tooth morphogenesis and patterning.

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