Roth, Helmut and Fritsche, Lars G. and Meier, Christoph and Pilz, Peter and Eigenthaler, Martin and Meyer-Marcotty, Philipp and Stellzig-Eisenhauer, Angelika and Proff, Peter and Kanno, Claudia M. and Weber, Bernhard H. F. (2014) Expanding the spectrum of PTH1R mutations in patients with primary failure of tooth eruption. CLINICAL ORAL INVESTIGATIONS, 18 (2). pp. 377-384. ISSN 1432-6981, 1436-3771
Full text not available from this repository. (Request a copy)Abstract
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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | HORMONE-RELATED PEPTIDE; PARATHYROID-HORMONE; RECEPTOR; PTHR1; OSTEOCHONDRODYSPLASIA; ENCHONDROMATOSIS; CHONDRODYSPLASIA; PROTEIN; ABSENCE; Primary failure of tooth eruption; Parathyroid hormone 1 receptor gene; Mutation detection; Protein truncating mutation; Nonsynonymous variant; Familial cases; Simplex cases |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 19 Nov 2019 14:53 |
| Last Modified: | 19 Nov 2019 14:53 |
| URI: | https://pred.uni-regensburg.de/id/eprint/10565 |
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