Tooth agenesis constitutes one of the most common developmental anomalies in man. Oligodontia is defined as congenital absence of six or more teeth. Based on the studies of our team in cooperation with Peking Universi...Tooth agenesis constitutes one of the most common developmental anomalies in man. Oligodontia is defined as congenital absence of six or more teeth. Based on the studies of our team in cooperation with Peking University Center for Human Disease Genomics in the past five years, this article reviews the current research progress in clinical phenotypes and case collection, epidemiological investigation and etiological genetic studies of oligodontia. The symptoms of oligodontia were classified into syndromic and non-syndromic according to the occurrence of tooth agenesis with or without systemic developmental defects. As for the advancement of theories and techniques of molecular genetics, a number of gene mutations have been identified to be the direct etiological factors causing some specified diseases, especially those with developmental defects. Here, this article summarized the outcomes of molecular genetic study of some cases we collected. Of the systemic oligondontia patients, a new four-base-deletion mutation in PITX2 was identified in a large kindred with typical symptoms of Rieger Syndrome; four different gene mutations in ED1 casing X-linked hypohidrotic ectodermal displasia were found in five nucleus families. Compared with the former, non-syndromic oligodontia has more genetic heterogeneity rather than some specific virulence gene. PAX9 and MSX1 are the identified genes associated with family tooth agenesis without systemic syndrome. Also, in our research, three gene mutations in CBFA1 were detected in four cleidocranial dysplasia families, which is a systemic developmental disease including the symptoms of tooth eruption abnormality and accessory teeth.展开更多
目的评价浓缩生长因子(concentrated growth factor,CGF)应用于上颌前牙区唇侧骨缺损引导骨再生(guided bone regeneration,GBR)的效果。方法选取上颌前牙区单牙缺失伴唇侧水平向骨缺损40例,随机分为观察组和对照组各20例。观察组使用...目的评价浓缩生长因子(concentrated growth factor,CGF)应用于上颌前牙区唇侧骨缺损引导骨再生(guided bone regeneration,GBR)的效果。方法选取上颌前牙区单牙缺失伴唇侧水平向骨缺损40例,随机分为观察组和对照组各20例。观察组使用浓缩生长因子+骨粉+胶原膜行引导骨再生术;对照组使用骨粉+胶原膜行常规引导骨再生术。术后行软组织愈合评估,术后半年评价骨增量的效果。结果观察组软组织伤口一期愈合率为100%,对照组为75%,观察组高于对照组,差异具有统计学意义(P=0.017)。观察组术后半年骨宽度增加量为(3.70±0.28)mm,对照组为(2.96±0.16)mm,观察组骨增量大于对照组,差异具有统计学意义(P=0.000)。结论 CGF能促进上颌前牙区骨缺损引导骨再生术的成骨量。展开更多
文摘Tooth agenesis constitutes one of the most common developmental anomalies in man. Oligodontia is defined as congenital absence of six or more teeth. Based on the studies of our team in cooperation with Peking University Center for Human Disease Genomics in the past five years, this article reviews the current research progress in clinical phenotypes and case collection, epidemiological investigation and etiological genetic studies of oligodontia. The symptoms of oligodontia were classified into syndromic and non-syndromic according to the occurrence of tooth agenesis with or without systemic developmental defects. As for the advancement of theories and techniques of molecular genetics, a number of gene mutations have been identified to be the direct etiological factors causing some specified diseases, especially those with developmental defects. Here, this article summarized the outcomes of molecular genetic study of some cases we collected. Of the systemic oligondontia patients, a new four-base-deletion mutation in PITX2 was identified in a large kindred with typical symptoms of Rieger Syndrome; four different gene mutations in ED1 casing X-linked hypohidrotic ectodermal displasia were found in five nucleus families. Compared with the former, non-syndromic oligodontia has more genetic heterogeneity rather than some specific virulence gene. PAX9 and MSX1 are the identified genes associated with family tooth agenesis without systemic syndrome. Also, in our research, three gene mutations in CBFA1 were detected in four cleidocranial dysplasia families, which is a systemic developmental disease including the symptoms of tooth eruption abnormality and accessory teeth.
