PDF(Pubmed)
Abstract：
OBJECTIVE: Dentinogenesis imperfecta (DI) is an inherited dentin defect and may be isolated or associated with disorders such as osteogenesis imperfecta, odontochondrodysplasia Ehler-Danlos and others. Isolated DI is caused mainly by pathogenic variants in DSPP gene and around 50 different variants have been described in this gene. Herein, we report on 19 patients from two unrelated Egyptian families with isolated DI. Additionally, we focused on genetic counselling of the two families.
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.
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.
摘要：
目的：牙本质发育不全（DI）是一种遗传性牙本质缺陷，可能是孤立的或与成骨发育不全等疾病有关，牙软骨发育不良Ehler-Danlos和其他人。分离的DI主要由DSPP基因中的致病性变体引起,并且在该基因中已经描述了大约50种不同的变体。在这里，我们报告了来自两个无关的埃及家庭的19例患者，这些患者患有孤立的DI。此外,我们专注于这两个家庭的遗传咨询。
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。
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。
