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

doi:10.1007/s00586-016-4559-4

Review

. 2016 Sep;25(9):2967-74.

doi: 10.1007/s00586-016-4559-4. Epub 2016 Apr 8.

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

Limin Liu^{1

2}, QianQian Pang^{1

3}, Yan Jiang¹, Mei Li¹, Ou Wang¹, Weibo Xia⁴

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.
² Department of Cardiology, Fuwai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, North LiShi Road, Beijing, 100037, China.
³ Department of Endocrinology, The First Affiliated Hospital of ShanXi Medical University, Taiyuan, 030001, China.
⁴ 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. xiaweibonfm@126.com.

PMID: 27059630
DOI: 10.1007/s00586-016-4559-4

Review

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

Limin Liu et al. Eur Spine J. 2016 Sep.

. 2016 Sep;25(9):2967-74.

doi: 10.1007/s00586-016-4559-4. Epub 2016 Apr 8.

Authors

Limin Liu^{1

2}, QianQian Pang^{1

3}, Yan Jiang¹, Mei Li¹, Ou Wang¹, Weibo Xia⁴

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.
² Department of Cardiology, Fuwai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, North LiShi Road, Beijing, 100037, China.
³ Department of Endocrinology, The First Affiliated Hospital of ShanXi Medical University, Taiyuan, 030001, China.
⁴ 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. xiaweibonfm@126.com.

PMID: 27059630
DOI: 10.1007/s00586-016-4559-4

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.

Keywords: COL2A1; Mutation; Spondyloepiphyseal dysplasia congenita (SEDC).

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[1] J Biol Chem. 1994 May 6;269(18):13663-9 - PubMed

[2] J Biol Chem. 1994 May 6;269(18):13663-9 - PubMed

[3] J Paediatr Child Health. 2012 Feb;48(2):E38-43 - PubMed

[4] J Paediatr Child Health. 2012 Feb;48(2):E38-43 - PubMed

[5] PLoS One. 2015 Jun 01;10(6):e0127529 - PubMed

[6] PLoS One. 2015 Jun 01;10(6):e0127529 - PubMed

[7] Am J Med Genet A. 2011 May;155A(5):943-68 - PubMed

[8] Am J Med Genet A. 2011 May;155A(5):943-68 - PubMed

[9] Am J Hum Genet. 1988 Dec;43(6):904-13 - PubMed

[10] Am J Hum Genet. 1988 Dec;43(6):904-13 - PubMed

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

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

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