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

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 th...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Physiology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6170876/
https://www.ncbi.nlm.nih.gov/pubmed/30319441
http://dx.doi.org/10.3389/fphys.2018.01329
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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
author_facet 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
author_sort Laugel-Haushalter, Virginie
collection PubMed
description 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(v)1.1) (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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spelling pubmed-61708762018-10-12 Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning 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 Front Physiol Physiology 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(v)1.1) (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. Frontiers Media S.A. 2018-09-26 /pmc/articles/PMC6170876/ /pubmed/30319441 http://dx.doi.org/10.3389/fphys.2018.01329 Text en Copyright © 2018 Laugel-Haushalter, Morkmued, Stoetzel, Geoffroy, Muller, Boland, Deleuze, Chennen, Pitiphat, Dollfus, Niederreither, Bloch-Zupan and Pungchanchaikul. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Physiology
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
Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning
title Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning
title_full Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning
title_fullStr Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning
title_full_unstemmed Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning
title_short Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning
title_sort genetic evidence supporting the role of the calcium channel, cacna1s, in tooth cusp and root patterning
topic Physiology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6170876/
https://www.ncbi.nlm.nih.gov/pubmed/30319441
http://dx.doi.org/10.3389/fphys.2018.01329
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