AUTHOR=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 

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

JOURNAL=Frontiers in Physiology

VOLUME=9

YEAR=2018

URL=https://www.frontiersin.org/journals/physiology/articles/10.3389/fphys.2018.01329

DOI=10.3389/fphys.2018.01329

ISSN=1664-042X

ABSTRACT=<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 <italic>CACNA1S</italic> (Ca<sub>v</sub>1.1) (NM_000069.2: c.[865A &gt; 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>