Abstract：
We aimed to characterize the genetic basis and craniofacial and dental features of Finnish patients with Axenfeld-Rieger syndrome (ARS). Mutational analyses of seven patients in five families were performed by sequencing or comparative genomic hybridization. Phenotypic analysis was based on both clinical and radiographic examinations, as well as on medical data. Lateral cephalometric radiographs of five patients were analysed using Viewbox 3.1-Cephalometric Software. The cephalometric values were compared to Finnish population-standard values of the same age and gender. Two frameshift mutations and three whole gene deletions were detected in five families. Class III skeletal relationship with retrognathic maxilla and mildly retrognathic mandible were detected in all five patients studied. Significant differences compared with the control values were in SNA (P = .0014), ANB (P = .0043) and SNB angles (P = .013). Five patients had anterior crossbite. Six patients showed tooth agenesis. The average number of missing teeth (third molars excluded) was 9 (range 0-15). The tooth agenesis rate was 52% in maxilla and 26% in mandible. Maxillary central and lateral permanent incisors were most often missing (rate 71% equally) while no one lacked canines or first molars in mandible. Two patients had a supernumerary mandibular permanent incisor. Six patients had either taurodontic and/or single-rooted molars. Our results suggest that class III skeletal relationship with maxillary and mandibular retrognathism, anterior crossbite, maxillary incisor agenesis and taurodontic, even pyramidal, roots are common determinants of ARS caused by PITX2 mutations.
摘要：
目的：我们的目的是表征Axenfeld-Rieger综合征（ARS）芬兰患者的遗传基础以及颅面和牙齿特征。
方法：通过测序或比较基因组杂交对5个家庭中的7名患者进行突变分析。表型分析基于临床和影像学检查，以及医疗数据。使用Viewbox3.1-头影测量软件分析了五名患者的侧位头颅X光片。将头颅测量值与相同年龄和性别的芬兰人口标准值进行比较。
结果：在五个家族中检测到两个移码突变和三个全基因缺失。在所有5例患者中，均检测到与颌骨后颌骨和轻度颌骨后颌骨的III类骨骼关系。与对照值相比，SNA存在显着差异（p=0.0014），ANB(p=0.0043)和SNB角度(p=0.013)。五名患者有前牙交叉咬伤。六名患者出现牙齿发育不全。平均缺失牙齿数量（排除第三磨牙）为9（范围0-15）。上颌骨牙齿发育率为52％，下颌骨为26％。上颌中央和外侧永久切牙最常缺失（比率为71％），而下颌骨中没有人缺少犬齿或第一磨牙。两名患者有一个多余的下颌永久切牙。6例患者有牙髓和/或单根磨牙。结论：我们的结果表明，III类骨骼关系与上颌和下颌后颌畸形。前牙咬合,上颌切牙发育不全和牛磺酮，甚至是金字塔形的,根是PITX2突变引起的Axenfeld-Rieger综合征的常见决定因素。
方法：通过测序或比较基因组杂交对5个家庭中的7名患者进行突变分析。表型分析基于临床和影像学检查，以及医疗数据。使用Viewbox3.1-头影测量软件分析了五名患者的侧位头颅X光片。将头颅测量值与相同年龄和性别的芬兰人口标准值进行比较。
结果：在五个家族中检测到两个移码突变和三个全基因缺失。在所有5例患者中，均检测到与颌骨后颌骨和轻度颌骨后颌骨的III类骨骼关系。与对照值相比，SNA存在显着差异（p=0.0014），ANB(p=0.0043)和SNB角度(p=0.013)。五名患者有前牙交叉咬伤。六名患者出现牙齿发育不全。平均缺失牙齿数量（排除第三磨牙）为9（范围0-15）。上颌骨牙齿发育率为52％，下颌骨为26％。上颌中央和外侧永久切牙最常缺失（比率为71％），而下颌骨中没有人缺少犬齿或第一磨牙。两名患者有一个多余的下颌永久切牙。6例患者有牙髓和/或单根磨牙。结论：我们的结果表明，III类骨骼关系与上颌和下颌后颌畸形。前牙咬合,上颌切牙发育不全和牛磺酮，甚至是金字塔形的,根是PITX2突变引起的Axenfeld-Rieger综合征的常见决定因素。
