Expanding the spectrum of PTH1R mutations in patients with primary failure of tooth eruption
| العنوان: | Expanding the spectrum of PTH1R mutations in patients with primary failure of tooth eruption |
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| المؤلفون: | Philipp Meyer-Marcotty, Cláudia Misue Kanno, Christoph Meier, Angelika Stellzig-Eisenhauer, Peter Proff, Lars G. Fritsche, Peter Pilz, Bernhard H. F. Weber, Helmut Roth, Martin Eigenthaler |
| المصدر: | Clinical Oral Investigations. 18:377-384 |
| بيانات النشر: | Springer Science and Business Media LLC, 2013. |
| سنة النشر: | 2013 |
| مصطلحات موضوعية: | Male, Pathology, medicine.medical_specialty, Tooth eruption, Biology, Bioinformatics, Human genetics, Pedigree, Tooth Eruption, Mutation, medicine, Humans, Female, In patient, Mutation detection, General Dentistry, Receptor, Parathyroid Hormone, Type 1 |
| الوصف: | 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.Sanger sequencing of the PTH1R coding exons and their immediate flanking intronic sequences was performed with DNA samples from 70 index PFE cases.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.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.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. |
| تدمد: | 1436-3771 1432-6981 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::230d90fd18c58388cb974abd262dcd9bTest https://doi.org/10.1007/s00784-013-1014-3Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....230d90fd18c58388cb974abd262dcd9b |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14363771 14326981 |
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