Laugel-Haushalter, Virginie Morkmued, Supawich Stoetzel, Corinne Geoffroy, Véronique Muller, Jean Boland, Anne Deleuze, Jean-François Chennen, Kirsley Pitiphat, Waranuch Dollfus, Hélène Niederreither, Karen Bloch-Zupan, Agnès Pungchanchaikul, Patimaporn Image_3_Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.JPEG <p>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 (Ca<sub>v</sub>1.1) (NM_000069.2: c.[865A > G];[=] p.[Ile289Val];[=]), the Calcium Channel, Voltage-Dependent, L Type, Alpha-1s Subunit, OMIM <sup>∗</sup> 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.</p> rare disease;dental anomalies;patterning;mutations;NGS;human;calcium ion channel 2018-09-27
    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
10.3389/fphys.2018.01329.s003