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Background <p>Permanent tooth loss is a key feature of non-syndromic tooth agenesis (NSTA). However, whether this is influenced by the mandibular environment remains unclear. We report a case of simultaneous variations in the tooth agenesis-associated genes <i>WNT10A</i> and <i>SMOC2</i> and the bone formation-associated gene <i>LRP4</i>, exploring the potential impact of the mandibular environment on tooth agenesis.</p> Methods <p>A 19-year-old patient with NSTA underwent clinical examination and genetic analysis using whole-exome sequencing and Sanger sequencing. We reanalyzed single-cell RNA-seq datasets from human molars and surrounding tissues and performed immunofluorescent staining on key cell subsets.</p> Results <p>The patient exhibited significant retention of primary teeth and loss of nine permanent teeth, with cone-beam computed tomography(CBCT) showing increased bone density and structural abnormalities. Genetic analysis revealed a novel variation in <i>LRP4</i> (c.1831&#xa0;C &gt; T, p.R611C), and variations in <i>SMOC2</i> (c.1138&#xa0;C &gt; T, p.R380C) and <i>WNT10A</i> (c.354T &gt; G, p.Y118*). Protein structure analysis revealed differences in the RMSD and hydrogen bonds between mutated LRP4 and SMOC2. Additionally, LRP4-positive alveolar bone cells send Fibroblast Growth Factor (FGF) signals to WNT10A-positive and SMOC2-positive dental pulp cells.</p> Conclusions <p>Based on a case of NSTA with <i>SMOC2</i> and novel <i>LRP4</i> variations linked to tooth agenesis and bone development, we revealed that LRP4 + alveolar bone cells may influence tooth development through FGF signaling, thereby regulating WNT10A + and SMOC2 + dental pulp cells.</p>

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WNT10A-SMOC2-LRP4 network affects permanent tooth development via potential tooth-bone interaction

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年12月17日

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  • Yiqi Chen,
  • Xuechun Li,
  • Siyuan Ma,
  • Jing Sun,
  • Caiqi Zhang,
  • Yi Wu,
  • Yiting Liu,
  • Xiaoshan Wu,
  • Qingping Gao

摘要

Background

Permanent tooth loss is a key feature of non-syndromic tooth agenesis (NSTA). However, whether this is influenced by the mandibular environment remains unclear. We report a case of simultaneous variations in the tooth agenesis-associated genes WNT10A and SMOC2 and the bone formation-associated gene LRP4, exploring the potential impact of the mandibular environment on tooth agenesis.

Methods

A 19-year-old patient with NSTA underwent clinical examination and genetic analysis using whole-exome sequencing and Sanger sequencing. We reanalyzed single-cell RNA-seq datasets from human molars and surrounding tissues and performed immunofluorescent staining on key cell subsets.

Results

The patient exhibited significant retention of primary teeth and loss of nine permanent teeth, with cone-beam computed tomography(CBCT) showing increased bone density and structural abnormalities. Genetic analysis revealed a novel variation in LRP4 (c.1831 C > T, p.R611C), and variations in SMOC2 (c.1138 C > T, p.R380C) and WNT10A (c.354T > G, p.Y118*). Protein structure analysis revealed differences in the RMSD and hydrogen bonds between mutated LRP4 and SMOC2. Additionally, LRP4-positive alveolar bone cells send Fibroblast Growth Factor (FGF) signals to WNT10A-positive and SMOC2-positive dental pulp cells.

Conclusions

Based on a case of NSTA with SMOC2 and novel LRP4 variations linked to tooth agenesis and bone development, we revealed that LRP4 + alveolar bone cells may influence tooth development through FGF signaling, thereby regulating WNT10A + and SMOC2 + dental pulp cells.