Primary failure of eruption (PFE)--clinical and molecular genetics analysis.

Journal of Orofacial Orthopedics = Fortschritte Der Kieferorthopädie : Organ/official Journal Deutsche Gesellschaft Für Kieferorthopädie
Angelika Stellzig-EisenhauerBernhard H F Weber

Abstract

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 ...Continue Reading

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Citations

Jun 19, 2013·Clinical Oral Investigations·Helmut RothBernhard Hf Weber
May 16, 2014·Journal of Orofacial Orthopedics = Fortschritte Der Kieferorthopädie : Organ/official Journal Deutsche Gesellschaft Für Kieferorthopädie·P PilzA Stellzig-Eisenhauer
May 1, 2015·International Journal of Paediatric Dentistry·Geetanjali SharmaJoseph Noar
Aug 14, 2012·Journal of Oral and Maxillofacial Surgery : Official Journal of the American Association of Oral and Maxillofacial Surgeons·Matthias TroeltzschMarkus Troeltzsch
Dec 5, 2013·Journal of Dental Research·S A Frazier-BowersS Bencharit
Jun 14, 2019·European Archives of Paediatric Dentistry : Official Journal of the European Academy of Paediatric Dentistry·M Q IsmailN V Hermann
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Mar 17, 2018·Head & Face Medicine·Marcel HanischSusanne Jung
Jan 2, 2018·Seminars in Orthodontics·James K HartsfieldLorri Ann Morford

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