Gong Yu, Feng Hai-Lian, He Hui-Ying, Ge Yan-Jun
Department of Prosthodontics, Peking University School and Hospital of Stomatology, Beijing 100081, China.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2010 Jun;32(3):254-9. doi: 10.3881/j.issn.1000-503X.2010.03.003.
To analyze the correlation between the phenotype and genotype of tooth agenesis using the tooth agenesis code (TAC) and the traditional descriptor for missing teeth.
Patients with isolated hypodontia caused by PAX9 or MSX1 mutation reported before May 2007 were enrolled. The teeth missing rate and TAC code were recorded. The missing teeth patterns caused by the two mutations were compared.
The teeth missing rates in each teeth positions were significantly different between maxillary and mandibular except maxillary central incisor, lateral incisor and mandibular canine, first molar (P<0.05, P<0.001). MSX1 gene mutation often led to the loss of maxillary first premolar, maxillary second premolar, and mandibular second premolar, while PAX9 gene mutation often led to the loss of the first, second, and third molars. The results were similar when analyzed either by TAC code analysis or by traditional descriptor.
PAX9 and MSX1 gene mutation can cause different phenotypes of tooth agenesis. The TAC code can be used in the analysis of the correlation between phenotype and genotype of the missing teeth patients.
使用牙齿发育不全编码（TAC）和传统的牙齿缺失描述方法，分析牙齿发育不全的表型与基因型之间的相关性。
纳入2007年5月之前报道的由PAX9或MSX1突变引起的孤立性恒牙缺失患者。记录牙齿缺失率和TAC编码。比较由这两种突变导致的牙齿缺失模式。
除上颌中切牙、侧切牙、下颌尖牙及第一磨牙外，上颌和下颌各牙齿位置的牙齿缺失率差异有统计学意义（P<0.05，P<0.001）。MSX1基因突变常导致上颌第一前磨牙、上颌第二前磨牙和下颌第二前磨牙缺失，而PAX9基因突变常导致第一、第二和第三磨牙缺失。通过TAC编码分析或传统描述方法分析，结果相似。
PAX9和MSX1基因突变可导致不同表型的牙齿发育不全。TAC编码可用于分析牙齿缺失患者表型与基因型之间的相关性。
