Expanding the spectrum of PTH1R mutations in patients with primary failure of tooth eruption

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dc.contributor.authorRoth, Helmut
dc.contributor.authorFritsche, Lars G.
dc.contributor.authorMeier, Christoph
dc.contributor.authorPilz, Peter
dc.contributor.authorEigenthaler, Martin
dc.contributor.authorMeyer-Marcotty, Philipp
dc.contributor.authorStellzig-Eisenhauer, Angelika
dc.contributor.authorProff, Peter
dc.contributor.authorKanno, Cláudia M. [UNESP]
dc.contributor.authorWeber, Bernhard HF
dc.contributor.institutionUniversity of Regensburg
dc.contributor.institutionUniversity of Wuerzburg
dc.contributor.institutionUniversity Medical Centre of Regensburg
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.date.accessioned2014-05-27T11:29:41Z
dc.date.available2014-05-27T11:29:41Z
dc.date.issued2013-06-17
dc.description.abstractObjectives: Primary failure of tooth eruption (PFE) is a rare autosomal-dominant disease characterized by severe lateral open bite as a consequence of incomplete eruption of posterior teeth. Heterozygous mutations in the parathyroid hormone 1 receptor (PTH1R) gene have been shown to cause PFE likely due to protein haploinsufficiency. To further expand on the mutational spectrum of PFE-associated mutations, we report here on the sequencing results of the PTH1R gene in 70 index PFE cases. Materials and methods: Sanger sequencing of the PTH1R coding exons and their immediate flanking intronic sequences was performed with DNA samples from 70 index PFE cases. Results: We identified a total of 30 unique variants, of which 12 were classified as pathogenic based on their deleterious consequences on PTH1R protein while 16 changes were characterized as unclassified variants with as yet unknown effects on disease pathology. The remaining two variants represent common polymorphisms. Conclusions: Our data significantly increase the number of presently known unique PFE-causing PTH1R mutations and provide a series of variants with unclear pathogenicity which will require further in vitro assaying to determine their effects on protein structure and function. Clinical relevance: Management of PTH1R-associated PFE is problematic, in particular when teeth are exposed to orthodontic force. Therefore, upon clinical suspicion of PFE, molecular DNA testing is indicated to support decision making for further treatment options. © 2013 Springer-Verlag Berlin Heidelberg.en
dc.description.affiliationInstitute of Human Genetics University of Regensburg, Franz-Josef-Strauss-Allee 11, Regensburg, 93053
dc.description.affiliationDepartment of Orthodontics University of Wuerzburg, Wuerzburg
dc.description.affiliationDental School, Department of Orthodontics University Medical Centre of Regensburg, Regensburg
dc.description.affiliationAraçatuba Dental School University Estadual Paulista (UNESP), Araçatuba
dc.description.affiliationUnespAraçatuba Dental School University Estadual Paulista (UNESP), Araçatuba
dc.format.extent1-8
dc.identifierhttp://dx.doi.org/10.1007/s00784-013-1014-3
dc.identifier.citationClinical Oral Investigations, p. 1-8.
dc.identifier.doi10.1007/s00784-013-1014-3
dc.identifier.issn1432-6981
dc.identifier.issn1436-3771
dc.identifier.scopus2-s2.0-84878817777
dc.identifier.urihttp://hdl.handle.net/11449/75666
dc.identifier.wosWOS:000332317500005
dc.language.isoeng
dc.relation.ispartofClinical Oral Investigations
dc.relation.ispartofjcr2.386
dc.relation.ispartofsjr0,986
dc.relation.ispartofsjr0,986
dc.rights.accessRightsAcesso restrito
dc.sourceScopus
dc.subjectFamilial cases
dc.subjectMutation detection
dc.subjectNonsynonymous variant
dc.subjectParathyroid hormone 1 receptor gene
dc.subjectPrimary failure of tooth eruption
dc.subjectProtein truncating mutation
dc.subjectSimplex cases
dc.titleExpanding the spectrum of PTH1R mutations in patients with primary failure of tooth eruptionen
dc.typeArtigo
dcterms.licensehttp://www.springer.com/open+access/authors+rights
unesp.author.orcid0000-0002-8808-7723[10]
unesp.author.orcid0000-0002-2110-1690[2]

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