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

  • Published online on: March 24, 2017     https://doi.org/10.3892/mmr.2017.6391
  • Pages: 2977-2982
  • Copyright: © Guo et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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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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May-2017
Volume 15 Issue 5

Print ISSN: 1791-2997
Online ISSN:1791-3004

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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