Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.
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ABSTRACT:
SUBMITTER: Laugel-Haushalter V
PROVIDER: S-EPMC6170876 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Publications
Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.
Laugel-Haushalter Virginie V Morkmued Supawich S Stoetzel Corinne C Geoffroy Véronique V Muller Jean J Boland Anne A Deleuze Jean-François JF Chennen Kirsley K Pitiphat Waranuch W Dollfus Hélène H Niederreither Karen K Bloch-Zupan Agnès A Pungchanchaikul Patimaporn P
Frontiers in physiology 20180926
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 <i>CACNA1S</i> (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> 11420 ...[more]
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