Tallón-Walton Victoria, Manzanares-Céspedes Maria-Cristina, Carvalho-Lobato Patricia, Valdivia-Gandur Ivan, Arte Sirpa, Nieminen Pekka
Human Anatomy and Embryology Unit, Campus de Bellvitge, Barcelona University, 5305, Pavelló de Govern, 5a planta, Feixa Llarga, s/n, 08907 L'Hospitalet del Llobregat, Barcelona, Spain,
Med Oral Patol Oral Cir Bucal. 2014 May 1;19(3):e248-54. doi: 10.4317/medoral.19173.
In the present study, it is describe the phenotypical analysis and the mutational screening, for genes PAX9 and MSX1, of six families affected by severe forms of tooth agenesis associated with other dental anomalies and systemic entities.
Six families affected by severe tooth agenesis associated with other dental anomalies and systemic entities were included. Oral exploration, radiological examination, medical antecedents consideration and mutational screening for PAX9 and MSX1 were carried out.
No mutations were discovered despite the fact that numerous teeth were missing. An important phenotypical variability was observed within the probands, not being possible to establish a parallelism with the patterns associated to previously described PAX9 and MSX1 mutations. CONCLUSIONS; These results bring us to conclude that probably other genes can determine phenotypical patterns of dental agenesis in the families studied, different than the ones described in the mutations of PAX9 and MSX1. Moreover, epigenetic factors can be involved, as those that can reduce gene dosage and other post-transcriptional modulation agents, causing dental agenesis associated or not with systemic anomalies.
在本研究中，对六个受严重牙齿发育不全影响的家族进行了表型分析以及PAX9和MSX1基因的突变筛查，这些家族还伴有其他牙齿异常和全身性疾病。
纳入了六个受严重牙齿发育不全影响且伴有其他牙齿异常和全身性疾病的家族。进行了口腔检查、放射学检查、病史回顾以及PAX9和MSX1的突变筛查。
尽管有大量牙齿缺失，但未发现突变。先证者中观察到重要的表型变异性，无法与先前描述的PAX9和MSX1突变相关模式建立平行关系。结论：这些结果使我们得出结论，在所研究的家族中，可能有其他基因决定牙齿发育不全的表型模式，不同于PAX9和MSX1突变中所描述的模式。此外，表观遗传因素可能参与其中，如那些可降低基因剂量的因素以及其他转录后调节因子，导致与全身性异常相关或不相关的牙齿发育不全。
