期刊
FRONTIERS IN PHYSIOLOGY
卷 9, 期 -, 页码 -出版社
FRONTIERS MEDIA SA
DOI: 10.3389/fphys.2018.01329
关键词
rare disease; dental anomalies; patterning; mutations; NGS; human; calcium ion channel
类别
资金
- La Fondation Maladies Rares
- University of Strasbourg
- Hopitaux Universitaires de Strasbourg (API)
- EU - RMT-TMO Offensive Sciences initiative
- INTERREG IV Upper Rhine program
- INTERREG V RARENET program
- French State fund [ANR-10-LABX-0030-INRT, ANR-10-IDEX-0002-02]
- Ambassade de France en Thailande, Service de Cooperation et d'Action Culturelle, 2018
- Bourse doctorale Franco-Thai, Ministere des Affaires Etrangeres, France
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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