Department of Prosthodontics, Peking University School and Hospital of Stomatology & National Center for Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Research Center of Oral Biomaterials and Digital Medical Devices & Central Laboratory, Beijing 100081, China.
First Clinical Division, Peking University School and Hospital of Stomatology & National Center for Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Research Center of Oral Biomaterials and Digital Medical Devices & Central Laboratory, Beijing 100081, China.
Int J Mol Sci. 2024 Sep 27;25(19):10451. doi: 10.3390/ijms251910451.
Deciduous tooth agenesis is a severe craniofacial developmental defect because it affects masticatory function from infancy and may result in delayed growth and development. Here, we aimed to identify the crucial pathogenic genes and clinical features of patients with deciduous tooth agenesis. We recruited 84 patients with severe deciduous tooth agenesis. Whole-exome and Sanger sequencing were used to identify the causative variants. Phenotype-genotype correlation analysis was conducted. We identified 54 different variants in 8 genes in 84 patients, including (73, 86.9%), (2, 2.4%), (2, 2.4%), (2, 2.4%), (1, 1.2%), (1, 1.2%), (1, 1.2%), and (1, 1.2%). Variants in () accounted for 86.9% of patients with deciduous tooth agenesis. Patients with the variants had an average of 15.4 missing deciduous teeth. Mandibular deciduous central incisors had the highest missing rate (100%), followed by maxillary deciduous lateral incisors (98.8%) and mandibular deciduous lateral incisors (97.7%). Our results indicated that gene variants are major pathogenic factors for deciduous tooth agenesis, and is specifically required for deciduous tooth development. The results provide guidance for clinical diagnosis and genetic counseling of deciduous tooth agenesis.
乳牙缺失是一种严重的颅面发育缺陷，因为它从婴儿期就影响咀嚼功能，可能导致生长发育迟缓。在这里，我们旨在确定乳牙缺失患者的关键致病基因和临床特征。我们招募了 84 名严重乳牙缺失的患者。使用全外显子组和 Sanger 测序来鉴定致病变异。进行表型-基因型相关性分析。我们在 84 名患者的 8 个基因中发现了 54 个不同的变异，包括 (73, 86.9%)、 (2, 2.4%)、 (2, 2.4%)、 (2, 2.4%)、 (1, 1.2%)、 (1, 1.2%)、 (1, 1.2%)和 (1, 1.2%)。 ()中的变异占乳牙缺失患者的 86.9%。携带 变异的患者平均有 15.4 颗缺失的乳牙。下颌乳中切牙缺失率最高（100%），其次是上颌乳侧切牙（98.8%）和下颌乳侧切牙（97.7%）。我们的结果表明， 基因变异是乳牙缺失的主要致病因素，而 对于乳牙发育是特异性必需的。研究结果为乳牙缺失的临床诊断和遗传咨询提供了指导。
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