Tallón-Walton Victòria, Manzanares-Céspedes Maria Cristina, Arte Sirpa, Carvalho-Lobato Patricia, Valdivia-Gandur Ivan, Garcia-Susperregui Antonio, Ventura Francesc, Nieminen Pekka
Human Anatomy and Embryology Unit, Campus de Bellvitge, Barcelona University, Barcelona, Spain.
Eur J Oral Sci. 2007 Dec;115(6):427-32. doi: 10.1111/j.1600-0722.2007.00492.x.
The objective of the present work was to study the phenotype and the genotype of three generations of a family affected by oligodontia and other dental anomalies. These family members also presented systemic conditions such as hypercholesterolemia, hypothyroidism, diabetes mellitus, scoliosis, and congenital cardiovascular anomalies. Clinical evaluation, panoramic radiographs, and anamnestic data were used for dental analysis. DNA extraction was carried out from gum samples or buccal swabs. A mutation was identified in six subjects across three generations affected by oligodontia, as well as different phenotypical manifestations, both systemic and oral. The previously undescribed PAX9 mutation was observed in the paired box (exon 2); this was a heterozygote transition of C175 to T, implying the change of arginine 59 for a termination codon. These results strongly suggested that the identified mutation was the etiological cause of the oligodontia. However, in two family members affected by both hypodontia and peg-shaped upper lateral incisors, no mutations in the PAX9 and MSX1 genes were identified. This fact underscores the importance that other presently unknown genes and developmental factors have in tooth development and in the etiology of dental anomalies.
本研究的目的是对一个受少牙症和其他牙齿异常影响的三代家族的表型和基因型进行研究。这些家族成员还患有系统性疾病，如高胆固醇血症、甲状腺功能减退、糖尿病、脊柱侧弯和先天性心血管异常。临床评估、全景X光片和既往病史数据用于牙齿分析。从牙龈样本或口腔拭子中提取DNA。在三代受少牙症影响的六名受试者中鉴定出一种突变，以及不同的全身和口腔表型表现。在配对盒（外显子2）中观察到先前未描述的PAX9突变；这是C175到T的杂合子转换，意味着精氨酸59被终止密码子取代。这些结果强烈表明，鉴定出的突变是少牙症的病因。然而，在两名同时患有缺牙症和上颌侧切牙呈钉状的家族成员中，未在PAX9和MSX1基因中鉴定出突变。这一事实强调了其他目前未知的基因和发育因素在牙齿发育和牙齿异常病因中的重要性。
