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Clinical and genetic analysis in 185 Chinese probands of osteogenesis imperfecta.
J Bone Miner Metab. 2021 May; 39(3):416-422.JB

Abstract

INTRODUCTION

Osteogenesis imperfecta (OI) is a well-known heritable disorder of connective tissue characterized by skeletal fragility and low bone mass. Nearly 90% of patients with OI have disease variants in COL1A1 and COL1A2 that encode for the α1 and α2 chains of type I collagen.

MATERIALS AND METHODS

A retrospective analysis of 185 probands who were diagnosed with OI in Shanghai Jiao Tong University Affiliated Sixth People's Hospital from March 2005 to December 2019 was performed.

RESULTS

A total of 140 mutations in COL1A1 and 45 mutations in COL1A2 were identified, of which 18 variations were novel. In the phenotype analysis, there were more sporadic cases than familial OI cases in China (54.6% vs. 45.4%, P < 0.001). A total of 98.9% of patients presented with a fracture history. The most common fracture sites were extremity long bones (femur, tibia-fibula and radius-ulna accounted for 36.6%, 17.1% and 11.7%, respectively). Patients with OI types III and IV, especially type III, had a higher proportion of dentinogenesis imperfecta (DI) than patients with OI type I (55% vs. 28%, P < 0.001). Interestingly, G767S and D1219N in COL1A1 and G337S in COL1A2 were the most frequent (3.52%, 2.11% and 8.89%, respectively), which seem to be hotspot mutations in the COL1A1 and COL1A2 genes in Chinese patients.

CONCLUSIONS

This study describes the mutations in the main pathogenic genes, COL1A1 and COL1A2, and the clinical characteristics of osteogenesis imperfecta in China. Furthermore, these findings help reveal the genetic basis of Asian OI patients and contribute to genetic counselling.

Authors+Show Affiliations

Department of Osteoporosis and Bone Disease, Shanghai Clinical Research Center of Bone Disease, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, 200233, China.Department of Osteoporosis and Bone Disease, Shanghai Clinical Research Center of Bone Disease, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, 200233, China.Department of Osteoporosis and Bone Disease, Shanghai Clinical Research Center of Bone Disease, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, 200233, China. zhangzl@sjtu.edu.cn.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

33070251

Citation

Xi, Lei, et al. "Clinical and Genetic Analysis in 185 Chinese Probands of Osteogenesis Imperfecta." Journal of Bone and Mineral Metabolism, vol. 39, no. 3, 2021, pp. 416-422.
Xi L, Zhang H, Zhang ZL. Clinical and genetic analysis in 185 Chinese probands of osteogenesis imperfecta. J Bone Miner Metab. 2021;39(3):416-422.
Xi, L., Zhang, H., & Zhang, Z. L. (2021). Clinical and genetic analysis in 185 Chinese probands of osteogenesis imperfecta. Journal of Bone and Mineral Metabolism, 39(3), 416-422. https://doi.org/10.1007/s00774-020-01163-5
Xi L, Zhang H, Zhang ZL. Clinical and Genetic Analysis in 185 Chinese Probands of Osteogenesis Imperfecta. J Bone Miner Metab. 2021;39(3):416-422. PubMed PMID: 33070251.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Clinical and genetic analysis in 185 Chinese probands of osteogenesis imperfecta. AU - Xi,Lei, AU - Zhang,Hao, AU - Zhang,Zhen-Lin, Y1 - 2020/10/17/ PY - 2020/06/01/received PY - 2020/10/01/accepted PY - 2020/10/19/pubmed PY - 2021/5/15/medline PY - 2020/10/18/entrez KW - COL1A1 KW - COL1A2 KW - Genotype KW - Osteogenesis imperfecta KW - Phenotype SP - 416 EP - 422 JF - Journal of bone and mineral metabolism JO - J Bone Miner Metab VL - 39 IS - 3 N2 - INTRODUCTION: Osteogenesis imperfecta (OI) is a well-known heritable disorder of connective tissue characterized by skeletal fragility and low bone mass. Nearly 90% of patients with OI have disease variants in COL1A1 and COL1A2 that encode for the α1 and α2 chains of type I collagen. MATERIALS AND METHODS: A retrospective analysis of 185 probands who were diagnosed with OI in Shanghai Jiao Tong University Affiliated Sixth People's Hospital from March 2005 to December 2019 was performed. RESULTS: A total of 140 mutations in COL1A1 and 45 mutations in COL1A2 were identified, of which 18 variations were novel. In the phenotype analysis, there were more sporadic cases than familial OI cases in China (54.6% vs. 45.4%, P < 0.001). A total of 98.9% of patients presented with a fracture history. The most common fracture sites were extremity long bones (femur, tibia-fibula and radius-ulna accounted for 36.6%, 17.1% and 11.7%, respectively). Patients with OI types III and IV, especially type III, had a higher proportion of dentinogenesis imperfecta (DI) than patients with OI type I (55% vs. 28%, P < 0.001). Interestingly, G767S and D1219N in COL1A1 and G337S in COL1A2 were the most frequent (3.52%, 2.11% and 8.89%, respectively), which seem to be hotspot mutations in the COL1A1 and COL1A2 genes in Chinese patients. CONCLUSIONS: This study describes the mutations in the main pathogenic genes, COL1A1 and COL1A2, and the clinical characteristics of osteogenesis imperfecta in China. Furthermore, these findings help reveal the genetic basis of Asian OI patients and contribute to genetic counselling. SN - 1435-5604 UR - https://www.unboundmedicine.com/medline/citation/33070251/Clinical_and_genetic_analysis_in_185_Chinese_probands_of_osteogenesis_imperfecta_ L2 - https://dx.doi.org/10.1007/s00774-020-01163-5 DB - PRIME DP - Unbound Medicine ER -