Guala Andrea, Falco Vittorio, Breedveld Guido, De Filippi Paola, Danesino Cesare
SOC Pediatria, Ospedale Castelli, Verbania, Italy.
Int J Paediatr Dent. 2008 Nov;18(6):441-5. doi: 10.1111/j.1365-263X.2008.00915.x. Epub 2008 Apr 28.
This study was conducted to report a family affected by benign hereditary chorea in which a large deletion including TTF1, PAX9, and other genes was identified and results in oligodontia.
Clinical and radiological studies of the two affected members (mother and daughter) were used to describe the oligodontia present in both of them.
The missing teeth in both patients are described in detail, and these data are compared with the dental anomalies observed in the only two other families with deletions of PAX9 and with the data available for 12 previously reported families carrying different types of PAX9 mutations.
There is a clinical relevance for recognizing such families, and offering available therapies since childhood is stressed. Some genotype-phenotype correlations between PAX9 mutations and dental anomalies can be drawn.
本研究旨在报告一个受良性遗传性舞蹈症影响的家系，在该家系中鉴定出一个包括TTF1、PAX9和其他基因的大片段缺失，该缺失导致了少牙症。
对两名受影响成员（母亲和女儿）进行临床和影像学研究，以描述她们两人中存在的少牙症情况。
详细描述了两名患者缺失的牙齿，并将这些数据与另外仅有的两个携带PAX9缺失的家系中观察到的牙齿异常情况以及12个先前报道的携带不同类型PAX9突变的家系的现有数据进行了比较。
识别此类家系具有临床意义，并强调从儿童期就提供可用的治疗方法。可以得出PAX9突变与牙齿异常之间的一些基因型-表型相关性。
