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Article Open Access

Identification of two novel mutations in the SLCO2A1 prostaglandin transporter gene in a Chinese patient with primary hypertrophic osteoarthropathy

  • Authors:
    • Ting Guo
    • Kai Yang
    • Lv Liu
    • Zhi‑Ping Tan
    • Hong Luo
  • View Affiliations / Copyright

    Affiliations: Department of Respiratory Medicine, The Second Xiangya Hospital of Central South University, Changsha, Hunan 410011, P.R. China, Xiangya School of Medicine, Central South University, Changsha, Hunan 410011, P.R. China, Clinical Center for Gene Diagnosis and Therapy, State Key Laboratory of Medical Genetics, The Second Xiangya Hospital of Central South University, Changsha, Hunan 410011, P.R. China
    Copyright: © Guo et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 2977-2982
    |
    Published online on: March 24, 2017
       https://doi.org/10.3892/mmr.2017.6391
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Abstract

Primary hypertrophic osteoarthropathy (PHO), which is a rare multi‑organic disease characterized by digital clubbing, pachydermia and periosteal reaction, typically begins during childhood or adolescence and progresses gradually over years prior to disease stabilization. To date, only two genes have been reported to be associated with PHO, 15‑hydroxyprostaglandin dehydrogenase and solute carrier organic anion transporter family, member 2A1 (SLCO2A1). However, the pathogenesis and the functions of the underlying genes remain to be fully elucidated. In the present study, a 20‑year‑old Chinese patient with PHO was investigated using sequence analysis of PHO genes and bioinformatics analysis. A novel, compound heterozygous mutation in the SLCO2A1 gene was identified, which contained two novel mutations: c.349delC (p.L117SfsX56) in exon 3 and c.1286A>G (p.Y429C) in exon 9. These two novel genotypes in PHO are the first, to the best of our knowledge, to be reported in PHO. This finding expands the mutation spectrum of PHO, which contributes to improving genetic diagnosis and future genetic counseling, and provides clues to the phenotype‑genotype associations.
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Copy and paste a formatted citation
Spandidos Publications style
Guo T, Yang K, Liu L, Tan ZP and Luo H: Identification of two novel mutations in the SLCO2A1 prostaglandin transporter gene in a Chinese patient with primary hypertrophic osteoarthropathy. Mol Med Rep 15: 2977-2982, 2017.
APA
Guo, T., Yang, K., Liu, L., Tan, Z., & Luo, H. (2017). Identification of two novel mutations in the SLCO2A1 prostaglandin transporter gene in a Chinese patient with primary hypertrophic osteoarthropathy. Molecular Medicine Reports, 15, 2977-2982. https://doi.org/10.3892/mmr.2017.6391
MLA
Guo, T., Yang, K., Liu, L., Tan, Z., Luo, H."Identification of two novel mutations in the SLCO2A1 prostaglandin transporter gene in a Chinese patient with primary hypertrophic osteoarthropathy". Molecular Medicine Reports 15.5 (2017): 2977-2982.
Chicago
Guo, T., Yang, K., Liu, L., Tan, Z., Luo, H."Identification of two novel mutations in the SLCO2A1 prostaglandin transporter gene in a Chinese patient with primary hypertrophic osteoarthropathy". Molecular Medicine Reports 15, no. 5 (2017): 2977-2982. https://doi.org/10.3892/mmr.2017.6391
Copy and paste a formatted citation
x
Spandidos Publications style
Guo T, Yang K, Liu L, Tan ZP and Luo H: Identification of two novel mutations in the SLCO2A1 prostaglandin transporter gene in a Chinese patient with primary hypertrophic osteoarthropathy. Mol Med Rep 15: 2977-2982, 2017.
APA
Guo, T., Yang, K., Liu, L., Tan, Z., & Luo, H. (2017). Identification of two novel mutations in the SLCO2A1 prostaglandin transporter gene in a Chinese patient with primary hypertrophic osteoarthropathy. Molecular Medicine Reports, 15, 2977-2982. https://doi.org/10.3892/mmr.2017.6391
MLA
Guo, T., Yang, K., Liu, L., Tan, Z., Luo, H."Identification of two novel mutations in the SLCO2A1 prostaglandin transporter gene in a Chinese patient with primary hypertrophic osteoarthropathy". Molecular Medicine Reports 15.5 (2017): 2977-2982.
Chicago
Guo, T., Yang, K., Liu, L., Tan, Z., Luo, H."Identification of two novel mutations in the SLCO2A1 prostaglandin transporter gene in a Chinese patient with primary hypertrophic osteoarthropathy". Molecular Medicine Reports 15, no. 5 (2017): 2977-2982. https://doi.org/10.3892/mmr.2017.6391
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