Frontiers in Physiology (Sep 2018)

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

  • Virginie Laugel-Haushalter,
  • Supawich Morkmued,
  • Supawich Morkmued,
  • Corinne Stoetzel,
  • Véronique Geoffroy,
  • Jean Muller,
  • Jean Muller,
  • Anne Boland,
  • Jean-François Deleuze,
  • Kirsley Chennen,
  • Kirsley Chennen,
  • Waranuch Pitiphat,
  • Hélène Dollfus,
  • Hélène Dollfus,
  • Karen Niederreither,
  • Karen Niederreither,
  • Agnès Bloch-Zupan,
  • Agnès Bloch-Zupan,
  • Agnès Bloch-Zupan,
  • Patimaporn Pungchanchaikul

DOI
https://doi.org/10.3389/fphys.2018.01329
Journal volume & issue
Vol. 9

Abstract

Read online

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.

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