PDF(Pubmed)
Abstract：
BACKGROUND: Primary failure of tooth eruption (PFE) is a rare autosome genetic disorder that causes open bite. This work aimed to report a small family of PFE(OMIM: # 125,350) with a novel PTH1R variant. One of the patients has a rare clinical phenotype of the anterior tooth involved only.
METHODS: The proband was a 13-year-old young man with an incomplete eruption of the right upper anterior teeth, resulting in a significant open-bite. His left first molar partially erupted. Family history revealed that the proband\'s 12-year-old brother and father also had teeth eruption disorders. Genetic testing found a novel PTH1R variant (NM_000316.3 c.1325-1336del), which has never been reported before. The diagnosis of PFE was based on clinical and radiographic characteristics and the result of genetic testing. Bioinformatic analysis predicted this variant would result in the truncation of the G protein-coupled receptor encoded by the PTH1R, affecting its structure and function.
CONCLUSIONS: A novel PTH1R variant identified through whole-exome sequencing further expands the mutation spectrum of PFE. Patients in this family have different phenotypes, which reflects the characteristics of variable phenotypic expression of PFE.
METHODS: The proband was a 13-year-old young man with an incomplete eruption of the right upper anterior teeth, resulting in a significant open-bite. His left first molar partially erupted. Family history revealed that the proband\'s 12-year-old brother and father also had teeth eruption disorders. Genetic testing found a novel PTH1R variant (NM_000316.3 c.1325-1336del), which has never been reported before. The diagnosis of PFE was based on clinical and radiographic characteristics and the result of genetic testing. Bioinformatic analysis predicted this variant would result in the truncation of the G protein-coupled receptor encoded by the PTH1R, affecting its structure and function.
CONCLUSIONS: A novel PTH1R variant identified through whole-exome sequencing further expands the mutation spectrum of PFE. Patients in this family have different phenotypes, which reflects the characteristics of variable phenotypic expression of PFE.
摘要：
背景：牙齿萌出（PFE）的原发性失败是一种罕见的常染色体遗传性疾病，可导致开放咬合。这项工作旨在报告具有新型PTH1R变体的PFE小家族(OMIM:#125,350)。其中一名患者仅涉及前牙的罕见临床表型。
方法：先证者是一个13岁的年轻人，右上前牙未完全萌出，导致明显的张开。他的左第一磨牙部分爆发。家族史显示，该先证者的12岁兄弟和父亲也有牙齿萌出障碍。基因检测发现了一种新的PTH1R变体（NM_000316.3c.1325-1336del），以前从未报道过。PFE的诊断基于临床和影像学特征以及基因检测的结果。生物信息学分析预测该变体将导致PTH1R编码的G蛋白偶联受体的截短，影响其结构和功能。
结论：通过全外显子组测序鉴定的新型PTH1R变异进一步扩展了PFE的突变谱。这个家族的病人有不同的表型,这反映了PFE的可变表型表达特征。
方法：先证者是一个13岁的年轻人，右上前牙未完全萌出，导致明显的张开。他的左第一磨牙部分爆发。家族史显示，该先证者的12岁兄弟和父亲也有牙齿萌出障碍。基因检测发现了一种新的PTH1R变体（NM_000316.3c.1325-1336del），以前从未报道过。PFE的诊断基于临床和影像学特征以及基因检测的结果。生物信息学分析预测该变体将导致PTH1R编码的G蛋白偶联受体的截短，影响其结构和功能。
结论：通过全外显子组测序鉴定的新型PTH1R变异进一步扩展了PFE的突变谱。这个家族的病人有不同的表型,这反映了PFE的可变表型表达特征。
