%0 Figure %A Laugel-Haushalter, Virginie %A Morkmued, Supawich %A Stoetzel, Corinne %A Geoffroy, Véronique %A Muller, Jean %A Boland, Anne %A Deleuze, Jean-François %A Chennen, Kirsley %A Pitiphat, Waranuch %A Dollfus, Hélène %A Niederreither, Karen %A Bloch-Zupan, Agnès %A Pungchanchaikul, Patimaporn %D 2018 %T Image_3_Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.JPEG %U https://frontiersin.figshare.com/articles/figure/Image_3_Genetic_Evidence_Supporting_the_Role_of_the_Calcium_Channel_CACNA1S_in_Tooth_Cusp_and_Root_Patterning_JPEG/7139606 %R 10.3389/fphys.2018.01329.s003 %2 https://frontiersin.figshare.com/ndownloader/files/13140887 %K rare disease %K dental anomalies %K patterning %K mutations %K NGS %K human %K calcium ion channel %X

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.

%I Frontiers