Tibial plateau fracture and RNA sequencing with osteogenesis imperfecta: a case report

Yixiao Chen; Guoqing Li; Liangchen Wei; Jian Weng; Su Liu; Mingxi Gu; Pei Liu; Yuanchao Zhu; Ao Xiong; Hui Zeng; Fei Yu

doi:10.3389/fendo.2023.1164386

Tibial plateau fracture and RNA sequencing with osteogenesis imperfecta: a case report

Front Endocrinol (Lausanne). 2023 May 9:14:1164386. doi: 10.3389/fendo.2023.1164386. eCollection 2023.

Authors

Yixiao Chen^{1

2}, Guoqing Li^{1

2}, Liangchen Wei^{1

2}, Jian Weng^{1

2}, Su Liu^{1

2}, Mingxi Gu¹, Pei Liu^{1

2}, Yuanchao Zhu^{1

2}, Ao Xiong^{1

2}, Hui Zeng^{1

2}, Fei Yu^{1

2}

Affiliations

¹ Department of Bone and Joint Surgery, Peking University Shenzhen Hospital, Shenzhen, China.
² National and Local Joint Engineering Research Center of Orthopaedic Biomaterials, Peking University Shenzhen Hospital, Shenzhen, China.

Abstract

Osteogenesis imperfecta (OI) is a hereditary skeletal dysplasia with an incidence of approximately 1:15,000 to 20,000. OI is usually caused by the mutation of COL1A1 and COL1A2, which would encode the α-chain of type I collagen. OI is clinically characterized by decreased bone mass, increased risk of bone fragility, blue sclerae, and dentinogenesis.

Case presentation: A 29-year-old male patient was diagnosed with right tibial plateau fracture caused by slight violence. Physical examination revealed the following: height, 140 cm; weight, 70 kg; body mass index (BMI), 35.71 kg/m²; blue sclera and barrel chest were observed. X-ray examination showed left convex deformity of the thoracic vertebrae with reduced thoracic volume. Laboratory examinations revealed a decrease in both vitamin D and blood calcium levels. Bone mineral density (BMD) was lower than the normal range. After the preoperative preparation was completed, the open reduction and internal fixation of the right tibial plateau fracture were performed. Meanwhile, whole blood samples of this OI patient and the normal control were collected for RNA transcriptome sequencing. The RNA sequence analysis revealed that there were 513 differentially expressed genes (DEGs) between this OI patient and the normal control. KEGG-enriched signaling pathways were significantly enriched in extracellular matrix (ECM)-receptor interactions.

Conclusion: In this case, DEGs between this OI patient and the normal control were identified by RNA transcriptome sequencing. Moreover, the possible pathogenesis of OI was also explored, which may provide new evidence for the treatment of OI.

Keywords: RNA transcriptome sequencing; diagnosis; osteogenesis imperfecta; surgery; tibial plateau fracture.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Fractures, Bone* / epidemiology
Humans
Male
Mutation
Osteogenesis Imperfecta* / complications
Osteogenesis Imperfecta* / epidemiology
Osteogenesis Imperfecta* / genetics
Tibial Plateau Fractures*

Substances

Collagen Type I, alpha2 Subunit

Grants and funding

This work was supported by grants from the National Natural Science Foundation of China (No. 82172432, No. 82102568, and No. 82001319), the National and Local Joint Engineering Research Center of Orthopaedic Biomaterials (No. XMHT20190204007), the Shenzhen Key Medical Discipline Construction Fund (No. SZXK023), the Shenzhen “San-Ming” Project of Medicine (No. SZSM201612092), the Shenzhen Science and Technology Program (No. KCXFZ20201221173411031, No. JCYJ20210324110214040, No. JCYJ20220531094214032, and No. JCYJ20190809152409606), the Guangdong Basic and Applied Basic Research Foundation (No. 2021A1515012586, No. 2022B1515120046, No. 2022A1515220111, and No. 2022A1515220038), the Research Foundation of Peking University Shenzhen Hospital (No. LCYJ2020019), and the Scientific Research Foundation of Peking University Shenzhen Hospital (No. KYQD2021099).