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Novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita in three unrelated Chinese families

European Spine Journal volume 25, pages 2967–2974 (2016)Cite this article

Abstract

Purpose

To present three identified novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita (SEDC) in three unrelated Chinese families, and perform analysis regarding the clinical and genetic features of SEDC in the Chinese population through assessment of the literature.

Methods

Medical history, physical examination, radiographic and laboratory tests were obtained from three Chinese clinically diagnosed SEDC patients. PCR technique and direct nucleotide sequencing were conducted to identify mutations in the COL2A1 gene. The protein functions of all the missense mutations were predicted by SIFT and Polyphen-2. Contrast analysis of Chinese SEDC cases were performed through the literature retrieval of the HGMD BIOBASE and PubMed database.

Results

Three novel heterozygous missense mutations (Gly537Asp, Gly909Ser, and Gly1149Val) in the COL2A1 gene were detected in this study. Literature review discovered a total of 15 COL2A1 mutations in Chinese SEDC patients. We analyzed the clinical features, mutation characteristics and explored the genotype-phenotype correlation of these Chinese SEDC cases.

Conclusions

Our study contributed to the further expansion of the COL2A1 mutation spectrum and provided more information concerning SEDC in the Chinese population through literature review.

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Acknowledgments

Our study was approved by the Medical Ethics Committee of the Peking Union Medical College Hospital. The authors are sincerely grateful to the SEDC patients, their families and the 100 healthy controls for their support and collaboration. This Research was Supported by the National Natural Science Foundation of China (No. 81471088 and 81170805), National Science and Technology Major Projects for “Major New Drugs Innovation and Development” (Grant 2008ZX09312-016), Beijing Natural Science Foundation (No. 7121012) and National Key Program of Clinical Science (WBYZ2011-873).

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Affiliations

  1. Key Laboratory of Endocrinology, Department of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Shuaifuyuan No. 1, Wangfujing, Dongcheng District, Beijing, 100730, China

    Limin Liu, QianQian Pang, Yan Jiang, Mei Li, Ou Wang & Weibo Xia

  2. Department of Cardiology, Fuwai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, North LiShi Road, Beijing, 100037, China

    Limin Liu

  3. Department of Endocrinology, The First Affiliated Hospital of ShanXi Medical University, Taiyuan, 030001, China

    QianQian Pang

Authors
  1. Limin Liu
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  2. QianQian Pang
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  3. Yan Jiang
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  4. Mei Li
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  5. Ou Wang
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  6. Weibo Xia
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Corresponding author

Correspondence to Weibo Xia.

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Ethical approval

All procedures performed in our study involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent

Written informed consent was obtained from all individual participants included in the study.

Conflict of interest

The authors declare that they have no conflicts of interest concerning this article.

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Liu, L., Pang, Q., Jiang, Y. et al. Novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita in three unrelated Chinese families. Eur Spine J 25, 2967–2974 (2016). https://doi.org/10.1007/s00586-016-4559-4

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  • DOI: https://doi.org/10.1007/s00586-016-4559-4

Keywords

  • Spondyloepiphyseal dysplasia congenita (SEDC)
  • COL2A1
  • Mutation