College of Life Sciences, Northwest University, Xi'an 710069, China.
State Key Laboratory of Military Stomatology, National Clinical Research Center for Oral Disease, Shaanxi Key Laboratory of Stomatology, Department of Oral Biology & Clinic of Oral Rare Diseases and Genetic Diseases, School of Stomatology, The Fourth Military Medical University, Xi'an 710032, China.
Int J Mol Sci. 2023 Jun 20;24(12):10412. doi: 10.3390/ijms241210412.
Osteopetrosis is a group of genetic bone disorders characterized by increased bone density and defective bone resorption. Osteopetrosis presents a series of clinical manifestations, including craniofacial deformities and dental problems. However, few previous reports have focused on the features of craniofacial and dental problems in osteopetrosis. In this review, we go through the clinical features, types, and related pathogenic genes of osteopetrosis. Then we summarize and describe the characteristics of craniofacial and dental abnormalities in osteopetrosis that have been published in PubMed from 1965 to the present. We found that all 13 types of osteopetrosis have craniomaxillofacial and dental phenotypes. The main pathogenic genes, such as chloride channel 7 gene (), T cell immune regulator 1 (), osteopetrosis-associated transmembrane protein 1 (), pleckstrin homology domain-containing protein family member 1 (), and carbonic anhydrase II (), and their molecular mechanisms involved in craniofacial and dental phenotypes, are discussed. We conclude that the telltale craniofacial and dental abnormalities are important for dentists and other clinicians in the diagnosis of osteopetrosis and other genetic bone diseases.
石骨症是一组以骨密度增加和骨吸收缺陷为特征的遗传性骨疾病。石骨症表现出一系列临床表现，包括颅面畸形和牙齿问题。然而，以前很少有报道关注石骨症中颅面和牙齿问题的特征。在这篇综述中，我们回顾了石骨症的临床特征、类型和相关致病基因。然后，我们总结并描述了从 1965 年至今在 PubMed 上发表的关于石骨症颅面和牙齿异常的特征。我们发现，所有 13 种石骨症都有颅面和牙齿表型。主要的致病基因，如氯离子通道 7 基因 ()、T 细胞免疫调节因子 1 ()、骨硬化症相关跨膜蛋白 1 ()、磷酯酶同源结构域蛋白家族成员 1 ()和碳酸酐酶 II ()，以及它们涉及颅面和牙齿表型的分子机制，都进行了讨论。我们的结论是，明显的颅面和牙齿异常对于牙医和其他临床医生诊断石骨症和其他遗传性骨疾病非常重要。
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