Stellzig-Eisenhauer Angelika, Decker Eva, Meyer-Marcotty Philipp, Rau Christiane, Fiebig Britta S, Kress Wolfram, Saar Kathrin, Rüschendorf Franz, Hubner Norbert, Grimm Tiemo, Witt Emil, Weber Bernhard H F
Department of Orthodontics, University of Würzburg, Würzburg, Germany.
J Orofac Orthop. 2010 Jan;71(1):6-16. doi: 10.1007/s00056-010-0908-9. Epub 2010 Feb 5.
The term "primary failure of eruption" (PFE) refers to the complete or partial failure of a primary non-ankylosed tooth to erupt due to a disturbance of the eruption mechanism. Up to now, the molecular basis for this failure was unknown.
Four families were studied in whom at least two members were affected by non-syndromic PFE as part of a clinical and molecular genetics study. Radiological diagnostics (OPTs) were carried out in all patients and their unaffected relatives (control group). The genetic analysis included a genomewide linkage analysis followed by direct DNA sequencing of positional candidate genes.
Starting from the index patients, we were able to reconstruct pedigrees over two and/or three generations in the families that indicated an autosomal-dominant mode of inheritance of non-syndromic PFE. Fifteen patients were diagnosed with PFE. Gender distribution was nearly equal (7 female, 8 male). Molecular genetic analysis of the PTHR1 gene revealed three distinct heterozygous mutations (c.1050-3C>G; c.543+1G>A; c.463G>T). Unaffected persons exhibited no mutations.
Knowledge of the genetic causes of non-syndromic PFE can now be used for the differential diagnosis of eruption failure. It permits affected family members to be identified early and may lead to new treatment possibilities in the long term. The genetically-verified diagnosis of "primary failure of eruption" can protect patients and orthodontists from years of futile treatment, because orthodontic treatment alone does not lead to success. Moreover, it has a negative influence on unaffected teeth and areas of the jaw.
“萌出原发性失败”（PFE）这一术语指的是由于萌出机制紊乱，一颗原发性非粘连乳牙完全或部分未能萌出。到目前为止，这种失败的分子基础尚不清楚。
作为一项临床和分子遗传学研究的一部分，对四个家族进行了研究，其中至少有两名成员受非综合征性PFE影响。对所有患者及其未受影响的亲属（对照组）进行了放射学诊断（口腔全景片）。基因分析包括全基因组连锁分析，随后对定位候选基因进行直接DNA测序。
从索引患者开始，我们能够重建这些家族中两代和/或三代的家系，表明非综合征性PFE为常染色体显性遗传模式。15名患者被诊断为PFE。性别分布几乎相等（7名女性，8名男性）。对PTHR1基因的分子遗传学分析发现了三个不同的杂合突变（c.1050-3C>G；c.543+1G>A；c.463G>T）。未受影响的人没有突变。
非综合征性PFE遗传原因的知识现在可用于萌出失败的鉴别诊断。它可以使受影响的家庭成员早日得到识别，并可能在长期内带来新的治疗可能性。经基因验证的“萌出原发性失败”诊断可以保护患者和正畸医生免受多年徒劳治疗之苦，因为仅正畸治疗不会成功。此外，它对未受影响的牙齿和颌骨区域有负面影响。
