Identification of a novel PTH1R variant in a family with primary failure of eruption
Abstract Background Primary failure of tooth eruption (PFE) is a rare autosome genetic disorder that causes open bite. This work aimed to report a small family of PFE(OMIM: # 125,350) with a novel PTH1R variant. One of the patients has a rare clinical phenotype of the anterior tooth involved only. C...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2023-07-01
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| Series: | BMC Oral Health |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12903-023-03226-1 |
| _version_ | 1797773915944124416 |
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| author | Yunchen Zha Shushu Li Yue-lin Yu Zicheng Huang Hai-ying Zhang Weidong Kong |
| author_facet | Yunchen Zha Shushu Li Yue-lin Yu Zicheng Huang Hai-ying Zhang Weidong Kong |
| author_sort | Yunchen Zha |
| collection | DOAJ |
| description | Abstract Background Primary failure of tooth eruption (PFE) is a rare autosome genetic disorder that causes open bite. This work aimed to report a small family of PFE(OMIM: # 125,350) with a novel PTH1R variant. One of the patients has a rare clinical phenotype of the anterior tooth involved only. Case presentation The proband was a 13-year-old young man with an incomplete eruption of the right upper anterior teeth, resulting in a significant open-bite. His left first molar partially erupted. Family history revealed that the proband’s 12-year-old brother and father also had teeth eruption disorders. Genetic testing found a novel PTH1R variant (NM_000316.3 c.1325-1336del), which has never been reported before. The diagnosis of PFE was based on clinical and radiographic characteristics and the result of genetic testing. Bioinformatic analysis predicted this variant would result in the truncation of the G protein-coupled receptor encoded by the PTH1R, affecting its structure and function. Conclusion A novel PTH1R variant identified through whole-exome sequencing further expands the mutation spectrum of PFE. Patients in this family have different phenotypes, which reflects the characteristics of variable phenotypic expression of PFE. |
| first_indexed | 2024-03-12T22:13:22Z |
| format | Article |
| id | doaj.art-de2bf94a70d24c5fa306e1e85dca9195 |
| institution | Directory Open Access Journal |
| issn | 1472-6831 |
| language | English |
| last_indexed | 2024-03-12T22:13:22Z |
| publishDate | 2023-07-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Oral Health |
| spelling | doaj.art-de2bf94a70d24c5fa306e1e85dca91952023-07-23T11:28:17ZengBMCBMC Oral Health1472-68312023-07-0123111010.1186/s12903-023-03226-1Identification of a novel PTH1R variant in a family with primary failure of eruptionYunchen Zha0Shushu Li1Yue-lin Yu2Zicheng Huang3Hai-ying Zhang4Weidong Kong5School of Stomatology, Jinan UniversityDepartment of orthodontics, The First Affiliated Hospital of Jinan UniversitySchool of Stomatology, Jinan UniversitySchool of Stomatology, Jinan UniversityZhaoqing Medical CollegeDepartment of orthodontics, The First Affiliated Hospital of Jinan UniversityAbstract Background Primary failure of tooth eruption (PFE) is a rare autosome genetic disorder that causes open bite. This work aimed to report a small family of PFE(OMIM: # 125,350) with a novel PTH1R variant. One of the patients has a rare clinical phenotype of the anterior tooth involved only. Case presentation The proband was a 13-year-old young man with an incomplete eruption of the right upper anterior teeth, resulting in a significant open-bite. His left first molar partially erupted. Family history revealed that the proband’s 12-year-old brother and father also had teeth eruption disorders. Genetic testing found a novel PTH1R variant (NM_000316.3 c.1325-1336del), which has never been reported before. The diagnosis of PFE was based on clinical and radiographic characteristics and the result of genetic testing. Bioinformatic analysis predicted this variant would result in the truncation of the G protein-coupled receptor encoded by the PTH1R, affecting its structure and function. Conclusion A novel PTH1R variant identified through whole-exome sequencing further expands the mutation spectrum of PFE. Patients in this family have different phenotypes, which reflects the characteristics of variable phenotypic expression of PFE.https://doi.org/10.1186/s12903-023-03226-1Primary failure of eruptionPTH1RNew variantCase report |
| spellingShingle | Yunchen Zha Shushu Li Yue-lin Yu Zicheng Huang Hai-ying Zhang Weidong Kong Identification of a novel PTH1R variant in a family with primary failure of eruption BMC Oral Health Primary failure of eruption PTH1R New variant Case report |
| title | Identification of a novel PTH1R variant in a family with primary failure of eruption |
| title_full | Identification of a novel PTH1R variant in a family with primary failure of eruption |
| title_fullStr | Identification of a novel PTH1R variant in a family with primary failure of eruption |
| title_full_unstemmed | Identification of a novel PTH1R variant in a family with primary failure of eruption |
| title_short | Identification of a novel PTH1R variant in a family with primary failure of eruption |
| title_sort | identification of a novel pth1r variant in a family with primary failure of eruption |
| topic | Primary failure of eruption PTH1R New variant Case report |
| url | https://doi.org/10.1186/s12903-023-03226-1 |
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