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BMPR2 Variants Underlie Nonsyndromic Oligodontia
Jinglei Zheng1, Haochen Liu1, Miao Yu1
1Department of Prosthodontics, Peking University School and Hospital of Stomatology & National Center of Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Research Center of Oral Biomaterials and Digital Medical Devices, Beijing 100081, China.
International Journal of Molecular Sciences
|January 21, 2023
Summary
Genetic variants in Bone Morphogenetic Protein Receptor Type 2 (BMPR2) are linked to nonsyndromic oligodontia, a rare tooth development disorder. This study identifies new BMPR2 variants and suggests haploinsufficiency as a key genetic mechanism.
Area of Science:
- Genetics
- Developmental Biology
- Oral Health
Background:
- Oligodontia is a congenital condition characterized by a reduced number of permanent teeth.
- The genetic causes of nonsyndromic oligodontia are largely unknown.
- Bone Morphogenetic Protein Receptor Type 2 (BMPR2) variants are known to cause pulmonary arterial hypertension (PAH).
Purpose of the Study:
- To investigate the genetic etiology of nonsyndromic oligodontia.
- To explore the role of BMPR2 in tooth development.
- To identify novel genetic variants associated with oligodontia.
Main Methods:
- Whole-exome sequencing and Sanger sequencing were used to identify genetic variants.
- Functional assays were performed to assess the impact of BMPR2 variants on signaling pathways.
- RNAscope in situ hybridization was employed to examine BMPR2 expression in mouse tooth germs.
Main Results:
- A novel heterozygous BMPR2 variant (c.814C > T; p.Arg272Cys) was identified in a family with nonsyndromic oligodontia.
- Two additional heterozygous BMPR2 variants (c.1042G > A; p.Val348Ile and c.1429A > G; p.Lys477Glu) were found in unrelated individuals.
- BMPR2 variants significantly inhibited phospho-SMAD1/5/8 activity, suggesting haploinsufficiency as the genetic mechanism.
- BMPR2 transcripts were highly expressed in developing mouse tooth germs.
Conclusions:
- This study identifies BMPR2 as a novel gene associated with nonsyndromic oligodontia.
- Haploinsufficiency of BMPR2 may be the underlying genetic mechanism for oligodontia.
- BMPR2 plays a crucial role in human tooth development.
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