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A genetic pedigree analysis to identify gene mutations involved in femoral head necrosis

  • Authors:
    • Lin Wang
    • Hehai Pan
    • Zhen‑An Zhu
  • View Affiliations / Copyright

    Affiliations: Department of Orthopaedics, Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200012, P.R. China, Department of Orthopaedics, The First Affiliated Hospital of Sun Yat‑sen University, Guangzhou, Guangdong 510080, P.R. China
  • Pages: 1835-1838
    |
    Published online on: July 22, 2014
       https://doi.org/10.3892/mmr.2014.2410
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Abstract

The present study presents results from a linkage and mutation screening analysis aiming to identify the causative gene of femoral head necrosis, also known as osteonecrosis of femoral head (ONFH), in a Chinese pedigree. We collected clinical data on the osteonecrosis pedigree, and extracted blood and genomic DNA from the family members. Polymerase chain reaction (PCR) and direct sequencing allowed to identify a mutation in the COL2A1 gene of the proband; the clinical manifestations of the proband meet the criteria for osteonecrosis. The exons of COL2A1 were amplified by polymerase chain reaction and mutation screening was conducted by direct sequencing in all the family members. The locus was also sequenced in 50 unrelated healthy controls. The c.3665G>A heterozygous mutation was detected in patients of the pedigree, but not in healthy individuals. We conclude that a mutation in the COL2A1 gene is the causative agent of ONFH in this family. Therefore, this mutation may be associated with osteonecrosis in Chinese populations.
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1 

Zhao HY, Counterattack O and Kang PD: Osteonecrosis etiology and pathogenesis research progress. Chin J Orthopaedic Surg. 20:32–40. 2009.

2 

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

3 

Shang XF, Su H, Chang WW, Wang CC, Han Q and Xu ZW: Association between MTHFR C677T polymorphism and osteonecrosis of the femoral head: a meta-analysis. Mol Biol Rep. 39:7089–7094. 2012. View Article : Google Scholar : PubMed/NCBI

4 

Kim H, Cho C, Cho Y, Cho S, Yoon K and Kim K: Significant associations of PAI-1 genetic polymorphisms with osteonecrosis of the femoral head. BMC Musculoskelet Disord. 12:1602011. View Article : Google Scholar : PubMed/NCBI

5 

Cheah KS, Stoker NG, Griffin JR, et al: Identification and characterization of the human type II collagen gene (COL2A1). Proc Natl Acad Sci USA. 82:2555–2559. 1985. View Article : Google Scholar : PubMed/NCBI

6 

Strom CM and Upholt WB: Isolation and characterization of genomic clones corresponding to the human type II procollagen gene. Nucleic Acids Res. 12:1025–1038. 1984. View Article : Google Scholar : PubMed/NCBI

7 

Chan D, Taylor TK and Cole WG: Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia. J Biol Chem. 268:15238–15245. 1993.PubMed/NCBI

8 

Vissing H, D’Alessio M and Lee B: Glycine to serine substitution in the triple helical domain of pro-alpha 1 (II) collagen results in a lethal perinatal form of short-limbed dwarfism. J Biol Chem. 264:18265–18267. 1989.PubMed/NCBI

9 

Ahmad NN, Ala-Kokko L, Knowlton RG, et al: Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). Proc Natl Acad Sci USA. 88:6624–6627. 1991. View Article : Google Scholar : PubMed/NCBI

10 

Zhou X, He X, He B, et al: Etifoxine promotes glial-derived neurotrophic factor-induced neurite outgrowth in PC12 cells. Mol Med Rep. 8:75–80. 2013.PubMed/NCBI

11 

Liu YF, Chen WM, Lin YF, 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

12 

Godfrey M and Hollister DW: Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen. Am J Hum Genet. 43:904–913. 1988.PubMed/NCBI

13 

Francomano CA, Liberfarb RM, Hirose T, et al: The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen. Genomics. 1:293–296. 1987. View Article : Google Scholar : PubMed/NCBI

14 

Knowlton RG, Katzenstein PL, Moskowitz RW, et al: Genetic linkage of a polymorphism in the type II procollagen gene (COL2A1) to primary osteoarthritis associated with mild chondrodysplasia. N Engl J Med. 322:526–530. 1990. View Article : Google Scholar : PubMed/NCBI

15 

Ala-Kokko L, Baldwin CT, Moskowitz RW and Prockop DJ: Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia. Proc Natl Acad Sci USA. 87:6565–6568. 1990. View Article : Google Scholar : PubMed/NCBI

16 

Wilkin DJ, Artz AS, South S, et al: Small deletions in the type II collagen triple helix produce kniest dysplasia. Am J Med Genet. 85:105–112. 1999. View Article : Google Scholar : PubMed/NCBI

17 

Miyamoto Y, Nakashima E, Hiraoka H, et al: A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia. Hum Genet. 118:175–178. 2005. View Article : Google Scholar : PubMed/NCBI

18 

Su P, Li R, Liu S, et al: 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.

19 

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

20 

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

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Copy and paste a formatted citation
Spandidos Publications style
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.
APA
Wang, L., Pan, H., & Zhu, Z. (2014). A genetic pedigree analysis to identify gene mutations involved in femoral head necrosis. Molecular Medicine Reports, 10, 1835-1838. https://doi.org/10.3892/mmr.2014.2410
MLA
Wang, L., Pan, H., Zhu, Z."A genetic pedigree analysis to identify gene mutations involved in femoral head necrosis". Molecular Medicine Reports 10.4 (2014): 1835-1838.
Chicago
Wang, L., Pan, H., Zhu, Z."A genetic pedigree analysis to identify gene mutations involved in femoral head necrosis". Molecular Medicine Reports 10, no. 4 (2014): 1835-1838. https://doi.org/10.3892/mmr.2014.2410
Copy and paste a formatted citation
x
Spandidos Publications style
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.
APA
Wang, L., Pan, H., & Zhu, Z. (2014). A genetic pedigree analysis to identify gene mutations involved in femoral head necrosis. Molecular Medicine Reports, 10, 1835-1838. https://doi.org/10.3892/mmr.2014.2410
MLA
Wang, L., Pan, H., Zhu, Z."A genetic pedigree analysis to identify gene mutations involved in femoral head necrosis". Molecular Medicine Reports 10.4 (2014): 1835-1838.
Chicago
Wang, L., Pan, H., Zhu, Z."A genetic pedigree analysis to identify gene mutations involved in femoral head necrosis". Molecular Medicine Reports 10, no. 4 (2014): 1835-1838. https://doi.org/10.3892/mmr.2014.2410
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