METHODS: The patients were examined clinically and dentally. Panoramic X-rays were done to some patients. Whole exome sequencing (WES) and Sanger sequencing were used.
RESULTS: WES revealed two new nonsense variants in DSPP gene, c.288T > A (p.Tyr96Ter) and c.255G > A (p.Trp85Ter). Segregation analysis by Sanger sequencing confirmed the presence of the first variant in all affected members of Family 1 while the second variant was confirmed to be de novo in the patient of Family 2.
CONCLUSIONS: Our study extends the number of DSPP pathogenic variants and strengthens the fact that DSPP is the most common DI causative gene irrespective of patients\' ethnicity. In addition, we provide insights on genetic counseling issues in patients with inherited DSPP variants taking into consideration the variable religion, culture and laws in our society.
方法:对患者进行临床和牙科检查。对一些患者进行了全景X射线检查。使用全外显子组测序(WES)和Sanger测序。
结果:WES揭示了DSPP基因中的两个新的无义变体,c.288T>A(p。Tyr96Ter)和c.255G>A(p。Trp85Ter)。通过Sanger测序的分离分析证实在家族1的所有受影响的成员中存在第一变体,而在家族2的患者中证实第二变体是从头的。
结论:我们的研究扩展了DSPP致病变异的数量,并加强了以下事实:无论患者种族如何,DSPP都是最常见的DI致病基因。此外,我们提供了遗传咨询问题的见解,在患者遗传DSPP变异考虑到可变的宗教,我们社会中的文化和法律。