A novel PAX9 variant in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9variants.

Zhanyun Jin, Junjia Guo, Yunyun Yuan, Lingqiang Meng, Hui Li, Ya Zhao, Jiabao Ren, Yongping Ma, Zun-Sheng Xiao, Hong Zhang, Ling Yang, Chenyun Dou, Xiaoxue Wang, Jinmei Wang, Wenjing Shen
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Abstract

Objectives: This study aimed to identifyPAX9variants in non-syndromic tooth agenesis families of China, as well as to analyze the genotype⁃phenotype of non-syndromic tooth agenesis caused by PAX9variants, which can provide a basis for the genetic diagnosis of tooth agenesis.

Methods: We collected the data of 44 patients with non-syndromic oligodontia who underwent treatment at Stomatological Hospital of Hebei Medical University between 2018 and 2023. Whole-exome sequencing was performed on the peripheral blood of the proband and its core family members, and the variants were verified by Sanger sequencing. Pathogenicity analysis and function prediction of the variants were performed using bioinformatics tools. The correlation between the genotype of PAX9 variant and its corresponding phenotype was examined by reviewing 55 publications retrieved from PubMed. The studies involved 232 tooth agenesis patients with PAX9 variants.

Results: A novel PAX9 c.447delG (p.Pro150Argfs*62) and a reported PAX9 c.406C>T (p.Gln136*) were identified in two Chinese families. Through bioinformatics analysis and three-dimensional structural modeling, we postulated that the frameshift variant was pathogenic. The outcome was the premature cessation of PAX9 protein, which caused severe structural and functional deficiencies. Summarizing the PAX9 genotype-phenotype relationship revealed that patients carrying the PAX9 variant commonly led to loss of the second molars.

Conclusions: We identified the novel PAX9 c.447delG (p.Pro150Argfs*62) in a Chinese family of non-syndromic oligodontia, expanding the known variant spectrum of PAX9. The most susceptible tooth position for PAX9 variants of tooth agenesis was the second molars and the deciduous molars during the deciduous dentition.

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一个中国非综合征少骨症家族中的新型PAX9变体及PAX9变体的基因型-表型分析。
研究目的本研究旨在识别我国非综合征牙列不齐家族中的PAX9变异株,并分析PAX9变异株导致的非综合征牙列不齐的基因型⁃表型,为牙列不齐的遗传学诊断提供依据:收集2018~2023年间在河北医科大学口腔医院接受治疗的44例非综合征少牙症患者资料。对原发性少症患者及其核心家庭成员的外周血进行全外显子组测序,并通过 Sanger 测序验证变异。利用生物信息学工具对变异进行了致病性分析和功能预测。通过查阅从 PubMed 上检索到的 55 篇文献,研究了 PAX9 变异基因型与相应表型之间的相关性。这些研究涉及232名患有PAX9变异的牙齿缺失患者:结果:在两个中国家庭中发现了一个新的PAX9 c.447delG(p.Pro150Argfs*62)和一个已报道的PAX9 c.406C>T(p.Gln136*)。通过生物信息学分析和三维结构建模,我们推测帧移变异是致病的。其结果是 PAX9 蛋白早衰,导致严重的结构和功能缺陷。总结 PAX9 基因型与表型的关系发现,携带 PAX9 变体的患者通常会导致第二磨牙缺失:我们在一个中国非综合征性少齿畸形家族中发现了新型 PAX9 c.447delG (p.Pro150Argfs*62),扩大了 PAX9 的已知变异谱。PAX9变异体最易发生牙齿缺失的位置是第二磨牙和乳牙期的乳磨牙。
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