Abstract
Tooth agenesis is one of the most common craniofacial disorders in humans. More than 350 genes have been associated with teeth development. In this study, we enrolled 60 child patients (age 13 to 17) with various types of tooth agenesis. Whole gene sequences of PAX9, MSX1, AXIN2, EDA, EDAR and WNT10a genes were sequenced by next generation sequencing on the Illumina MiSeq platform. We found previously undescribed heterozygous nonsense mutation g.8177G>T (c.610G>T) in MSX1 gene in one child. Mutation was verified by Sanger sequencing. Sequencing analysis was performed in other family members of the affected child. All family members carrying g.8177G>T mutation suffered from oligodontia (missing more than 6 teeth excluding third molars). Mutation g.8177G>T leads to a stop codon (p.E204X) and premature termination of Msx1 protein translation. Based on previous in vitro experiments on mutation disrupting function of Msx1 homeodomain, we assume that the heterozygous g.8177G>T nonsense mutation affects the amount and function of Msx1 protein and leads to tooth agenesis.
Highlights
Tooth development is a highly complex process involving interplay between the oral ectoderm and the ectomesenchyme cells putatively derived from the neural crest [1]
Using the technique of whole gene generation sequencing (NGS), DNA samples collected from 60 child patients were sequenced for mutation in PAX9, MSX1, AXIN2, EDA, EDAR and WNT10a genes
We looked for mutations which could be putatively linked to the oligodontia phenotype
Summary
Tooth development (odontogenesis) is a highly complex process involving interplay between the oral ectoderm and the ectomesenchyme cells putatively derived from the neural crest [1]. Novel mutation in MSX1 gene related to oligodontia of teeth is fully and precisely determined by these complex signalling networks. It is crucial for the participating molecules to be in the right place at the right time and in an exact quantity [3,4]. Molecular biology methods, such as genome-wide gene expression analysis by microarray assays, revealed expression profiles of the developing dentition and have identified several genes with hitherto unknown functions as possible contributors to the mechanisms of tooth development [5]. Generation Sequencing (NGS) is one of the major platforms making the recent advances possible [7,8]
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