Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Oncology Letters
      • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Biomedical Reports
      • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • Information for Authors
    • Information for Reviewers
    • Information for Librarians
    • Information for Advertisers
    • Conferences
  • Language Editing
Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • For Authors
    • For Reviewers
    • For Librarians
    • For Advertisers
    • Conferences
  • Language Editing
Login Register Submit
  • This site uses cookies
  • You can change your cookie settings at any time by following the instructions in our Cookie Policy. To find out more, you may read our Privacy Policy.

    I agree
Search articles by DOI, keyword, author or affiliation
Search
Advanced Search
presentation
Molecular Medicine Reports
Join Editorial Board Propose a Special Issue
Print ISSN: 1791-2997 Online ISSN: 1791-3004
Journal Cover
July-2018 Volume 18 Issue 1

Full Size Image

Sign up for eToc alerts
Recommend to Library

Journals

International Journal of Molecular Medicine

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

Medicine International

Medicine International

An International Open Access Journal Devoted to General Medicine.

Journal Cover
July-2018 Volume 18 Issue 1

Full Size Image

Sign up for eToc alerts
Recommend to Library

  • Article
  • Citations
    • Cite This Article
    • Download Citation
    • Create Citation Alert
    • Remove Citation Alert
    • Cited By
  • Similar Articles
    • Related Articles (in Spandidos Publications)
    • Similar Articles (Google Scholar)
    • Similar Articles (PubMed)
  • Download PDF
  • Download XML
  • View XML
Case Report Open Access

COL2A1 mutation (c.3508G>A) leads to avascular necrosis of the femoral head in a Chinese family: A case report

  • Authors:
    • Fang Liu
    • Zhizheng Xiong
    • Qi Liu
    • Jinxi Hu
    • Wenhua Li
    • Na Zhang
  • View Affiliations / Copyright

    Affiliations: Department of Orthopedics, Second Hospital of Yueyang, Yueyang, Hunan 414000, P.R. China
    Copyright: © Liu et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 254-260
    |
    Published online on: May 7, 2018
       https://doi.org/10.3892/mmr.2018.8984
  • Expand metrics +
Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )
Cited By (CrossRef): 0 citations Loading Articles...

This article is mentioned in:



Abstract

Avascular necrosis of the femoral head (ANFH) is a consequence of ischemia. Although the majority of cases of ANFH are sporadic, certain familial cases of ANFH have been reported to be associated with collagen type II α1 chain (COL2A1) mutations, which lead to COL2A1 gene dysfunction. The structure of secreted type II collagen contains a core area with a triple helical glycine (Gly)‑X‑Y domain, and the replacement of Gly in this region as a result of COL2A1 mutations may damage the structure of type II collagen. In the present study, a Chinese family with ANFH was recruited and genetic analysis was conducted to determine whether COL2A1 mutations were implicated in this familial ANFH. A three‑generation family containing 31 members, as well as 20 patients with sporadic ANFH, were recruited for investigation. The diagnosis was performed by independent surgeons and radiologists according to internationally recognized criteria. In the present study, a heterozygous c.3508G>A mutation in exon 50 of the COL2A1 gene was identified, which results in the substitution of Gly with serine at codon 1,170. Furthermore, genetic pedigree analysis indicated that this mutation was inherited in an autosomal dominant manner. The present study revealed that a heterozygous c.3508G>A mutation in the COL2A1 gene was involved in ANFH development in one Chinese family. Therefore, it is proposed that individuals who carry this c.3508G>A mutation in the COL2A1 gene should receive genetic counseling and early intervention for ANFH.
View Figures

Figure 1

Figure 2

Figure 3

Figure 4

View References

1 

Malizos KN, Karantanas AH, Varitimidis SE, Dailiana ZH, Bargiotas K and Maris T: Osteonecrosis of the femoral head: Etiology, imaging and treatment. Eur J Radiol. 63:16–28. 2007. View Article : Google Scholar : PubMed/NCBI

2 

Liu YF, Chen WM, Lin YF, Yang RC, Lin MW, Li LH, Chang YH, Jou YS, Lin PY, Su JS, et al: Type II collagen gene variants and inherited osteonecrosis of the femoral head. N Engl J Med. 352:2294–2301. 2005. View Article : Google Scholar : PubMed/NCBI

3 

Sakamoto Y, Yamamoto T, Miyake N, Matsumoto N, Iida A and Nakashima Y: Research Committee on Idiopathic Osteonecrosis of the Femoral Head of the Ministry of Health, Labour and Welfare of Japan, Iwamoto Y and Ikegawa S: Screening of the COL2A1 mutation in idiopathic osteonecrosis of the femoral head. J Orthop Res. 35:768–774. 2017. View Article : Google Scholar : PubMed/NCBI

4 

Zalavras CG and Lieberman JR: Osteonecrosis of the femoral head: Evaluation and treatment. J Am Acad Orthop Surg. 22:455–464. 2014. View Article : Google Scholar : PubMed/NCBI

5 

Moya-Angeler J, Gianakos AL, Villa JC, Ni A and Lane JM: Current concepts on osteonecrosis of the femoral head. World J Orthop. 6:590–601. 2015. View Article : Google Scholar : PubMed/NCBI

6 

Glueck CJ, Glueck HI, Welch M, Freiberg R, Tracy T, Hamer T and Stroop D: Familial idiopathic osteonecrosis mediated by familial hypofibrinolysis with high levels of plasminogen activator inhibitor. Thromb Haemost. 71:195–198. 1994.PubMed/NCBI

7 

Nobillot R, Le Parc JM, Benoit J and Paolaggi JB: Idiopathic osteonecrosis of the hip in twins. Ann Rheum Dis. 53:7021994. View Article : Google Scholar : PubMed/NCBI

8 

Li N, Yu J, Cao X, Wu QY, Li WW, Li TF, Zhang C, Cui YX, Li XJ, Yin ZM and Xia XY: A Novel p. Gly630Ser mutation of COL2A1 in a Chinese family with presentations of Legg-Calvé-Perthes disease or avascular necrosis of the femoral head. PloS One. 9:e1005052014. View Article : Google Scholar : PubMed/NCBI

9 

Chen WM, Liu YF, Lin MW, Chen IC, Lin PY, Lin GL, Jou YS, Lin YT, Fann CS, Wu JY, et al: Autosomal dominant avascular necrosis of femoral head in two Taiwanese pedigrees and linkage to chromosome 12q13. Am J Hum Genet. 75:310–317. 2004. View Article : Google Scholar : PubMed/NCBI

10 

Mow VC GW and Chen FH: Structure and function of articular cartilage and meniscusLippincott Williams and Wilkins. Philadelphia, PA: pp. 181–258. 2005

11 

Eyre D: Collagen of articular cartilage. Arthritis Res. 4:30–35. 2002. View Article : Google Scholar : PubMed/NCBI

12 

Arnold WV and Fertala A: Skeletal diseases caused by mutations that affect collagen structure and function. Int J Biochem Cell Biol. 45:1556–1567. 2013. View Article : Google Scholar : PubMed/NCBI

13 

Gelse K, Pöschl E and Aigner T: Collagens-structure, function, and biosynthesis. Adv Drug Deliv Rev. 55:1531–1546. 2003. View Article : Google Scholar : PubMed/NCBI

14 

Al-Omran AK and Sadat-Ali M: Legg-Calvé-Perthes disease in two generations of male family members: A case report. J Orthop Surg (Hong Kong). 21:258–261. 2013. View Article : Google Scholar : PubMed/NCBI

15 

Kannu P, Irving M, Aftimos S and Savarirayan R: Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentation. Clin Orthop Relat Res. 469:1785–1790. 2011. View Article : Google Scholar : PubMed/NCBI

16 

Su P, Li R, Liu S, Zhou Y, Wang X, Patil N, Mow CS, Mason JC, Huang D and Wang Y: Age at onset-dependent presentations of premature hip osteoarthritis, avascular necrosis of the femoral head, or Legg-Calvé-Perthes disease in a single family, consequent upon a p. Gly1170Ser mutation of COL2A1. Arthritis Rheum. 58:1701–1706. 2008. View Article : Google Scholar : PubMed/NCBI

17 

Su P, Zhang L, Peng Y, Liang A, Du K and Huang D: A histological and ultrastructural study of femoral head cartilage in a new type II collagenopathy. Int Orthop. 34:1333–1339. 2010. View Article : Google Scholar : PubMed/NCBI

18 

Kannu P O, Rielly DD, Hyland JC and Kokko LA: Avascular necrosis of the femoral head due to a novel C propeptide mutation in COL2A1. Am J Med Genet A. 155A:1759–1762. 2011. View Article : Google Scholar : PubMed/NCBI

19 

Kishiya M, Nakamura Y, Ohishi H, Furukawa K and Ishibashi Y: Identification of a novel COL2A1 mutation (c.1744G>A) in a Japanese family: A case report. J Med Case Rep. 8:2762014. View Article : Google Scholar : PubMed/NCBI

20 

Wang L, Pan H and Zhu ZA: A genetic pedigree analysis to identify gene mutations involved in femoral head necrosis. Mol Med Rep. 10:1835–1838. 2014. View Article : Google Scholar : PubMed/NCBI

21 

Ficat RP: Idiopathic bone necrosis of the femoral head. Early diagnosis and treatment. J Bone Joint Surg Br. 67:3–9. 1985. View Article : Google Scholar : PubMed/NCBI

22 

Robin NH, Moran RT and Ala-Kokko L: Homo sapiens collagen type II alpha 1 chain (COL2A1), RefSeqGene on chromosome 12GeneReviews((R)). Adam MP, Ardinger HH, Pagon RA, et al: University of Washington; Seattle, WA: pp. 249–252. 1993

23 

Higuchi Y, Hasegawa K, Yamashita M, Tanaka H and Tsukahara H: A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: A case report and review of the literature. J Med Case Rep. 11:2372017. View Article : Google Scholar : PubMed/NCBI

24 

Huang X, Deng X, Xu H, Wu S, Yuan L, Yang Z, Yang Y and Deng H: Identification of a novel mutation in the COL2A1 gene in a Chinese family with spondyloepiphyseal dysplasia congenita. PloS One. 10:e01275292015. View Article : Google Scholar : PubMed/NCBI

25 

Miyamoto Y, Matsuda T, Kitoh H, Haga N, Ohashi H, Nishimura G and Ikegawa S: A recurrent mutation in type II collagen gene causes Legg-Calve-Perthes disease in a Japanese family. Hum Genet. 121:625–629. 2007. View Article : Google Scholar : PubMed/NCBI

26 

Spranger J, Winterpacht A and Zabel B: The type II collagenopathies: A spectrum of chondrodysplasias. Eur J Pediatr. 153:56–65. 1994. View Article : Google Scholar : PubMed/NCBI

27 

Kannu P, Bateman JF, Randle S, Cowie S, du Sart D, McGrath S, Edwards M and Savarirayan R: Premature arthritis is a distinct type II collagen phenotype. Arthritis Rheum. 62:1421–1430. 2010. View Article : Google Scholar : PubMed/NCBI

28 

Yoshida M: Experimental avascular necrosis of the femoral head-a microangiographic and histological study. Nihon Seikeigeka Gakkai Zasshi. 65:56–69. 1991.(In Japanese). PubMed/NCBI

29 

Mont MA, Zywiel MG, Marker DR, Mcgrath MS and Delanois RE: The natural history of untreated asymptomatic osteonecrosis of the femoral head: A systematic literature review. J Bone Joint Surg Am. 92:2165–2170. 2010. View Article : Google Scholar : PubMed/NCBI

30 

Catto M: A histological study of avascular necrosis of the femoral head after transcervical fracture. J Bone Joint Surg Br. 47:749–776. 1965. View Article : Google Scholar : PubMed/NCBI

31 

Bonaventure J, Cohen-Solal L, Ritvaniemi P, Van Maldergem L, Kadhom N, Delezoide AL, Maroteaux P, Prockop DJ and Ala-Kokko L: Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: Analysis of genotype-phenotype relationships. Biochem J. 307:823–830. 1995. View Article : Google Scholar : PubMed/NCBI

32 

Ritvaniemi P, Körkkö J, Bonaventure J, Vikkula M, Hyland J, Paassilta P, Kaitila I, Kääriäinen H, Sokolov BP and Hakala M: Identification of COL2A1 gene mutations in patients with chondrodysplasias and familial osteoarthritis. Arthritis Rheum. 38:999–1004. 1995. View Article : Google Scholar : PubMed/NCBI

33 

Tiller GE, Polumbo PA, Weis MA, Bogaert R, Lachman RS, Cohn DH, Rimoin DL and Eyre DR: Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type. Nat Genet. 11:87–89. 1995. View Article : Google Scholar : PubMed/NCBI

34 

Tiller GE, Weis MA, Polumbo PA, Gruber HE, Rimoin DL, Cohn DH and Eyre DR: An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita. Am J Hum Genet. 56:388–395. 1995.PubMed/NCBI

35 

Mortier GR, Weis MA, Nuytinck L, King LM, Wilkin DJ, De Paepe A, Lachman RS, Rimoin DL, Eyre DR and Cohn DH: Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder. J Med Genet. 37:263–271. 2000. View Article : Google Scholar : PubMed/NCBI

Related Articles

  • Abstract
  • View
  • Download
  • Twitter
Copy and paste a formatted citation
Spandidos Publications style
Liu F, Xiong Z, Liu Q, Hu J, Li W and Zhang N: COL2A1 mutation (c.3508G>A) leads to avascular necrosis of the femoral head in a Chinese family: A case report. Mol Med Rep 18: 254-260, 2018.
APA
Liu, F., Xiong, Z., Liu, Q., Hu, J., Li, W., & Zhang, N. (2018). COL2A1 mutation (c.3508G>A) leads to avascular necrosis of the femoral head in a Chinese family: A case report. Molecular Medicine Reports, 18, 254-260. https://doi.org/10.3892/mmr.2018.8984
MLA
Liu, F., Xiong, Z., Liu, Q., Hu, J., Li, W., Zhang, N."COL2A1 mutation (c.3508G>A) leads to avascular necrosis of the femoral head in a Chinese family: A case report". Molecular Medicine Reports 18.1 (2018): 254-260.
Chicago
Liu, F., Xiong, Z., Liu, Q., Hu, J., Li, W., Zhang, N."COL2A1 mutation (c.3508G>A) leads to avascular necrosis of the femoral head in a Chinese family: A case report". Molecular Medicine Reports 18, no. 1 (2018): 254-260. https://doi.org/10.3892/mmr.2018.8984
Copy and paste a formatted citation
x
Spandidos Publications style
Liu F, Xiong Z, Liu Q, Hu J, Li W and Zhang N: COL2A1 mutation (c.3508G>A) leads to avascular necrosis of the femoral head in a Chinese family: A case report. Mol Med Rep 18: 254-260, 2018.
APA
Liu, F., Xiong, Z., Liu, Q., Hu, J., Li, W., & Zhang, N. (2018). COL2A1 mutation (c.3508G>A) leads to avascular necrosis of the femoral head in a Chinese family: A case report. Molecular Medicine Reports, 18, 254-260. https://doi.org/10.3892/mmr.2018.8984
MLA
Liu, F., Xiong, Z., Liu, Q., Hu, J., Li, W., Zhang, N."COL2A1 mutation (c.3508G>A) leads to avascular necrosis of the femoral head in a Chinese family: A case report". Molecular Medicine Reports 18.1 (2018): 254-260.
Chicago
Liu, F., Xiong, Z., Liu, Q., Hu, J., Li, W., Zhang, N."COL2A1 mutation (c.3508G>A) leads to avascular necrosis of the femoral head in a Chinese family: A case report". Molecular Medicine Reports 18, no. 1 (2018): 254-260. https://doi.org/10.3892/mmr.2018.8984
Follow us
  • Twitter
  • LinkedIn
  • Facebook
About
  • Spandidos Publications
  • Careers
  • Cookie Policy
  • Privacy Policy
How can we help?
  • Help
  • Live Chat
  • Contact
  • Email to our Support Team