Image_2_Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.JPEG (1.68 MB)
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posted on 2018-09-27, 07:59 authored by Virginie Laugel-Haushalter, Supawich Morkmued, Corinne Stoetzel, Véronique Geoffroy, Jean Muller, Anne Boland, Jean-François Deleuze, Kirsley Chennen, Waranuch Pitiphat, Hélène Dollfus, Karen Niederreither, Agnès Bloch-Zupan, Patimaporn PungchanchaikulIn 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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