Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy.

@article{Zhang2012ExomeSI,
  title={Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy.},
  author={Zhenlin Zhang and Weibo Xia and Jinwei He and Zeng Y Zhang and Yaohua Ke and Hua Yue and Chun Wang and Hao Zhang and Jiemei Gu and Weiwei Hu and Wenzhen Fu and Yunqiu Hu and Miao Zhen Li and Yujuan Liu},
  journal={American journal of human genetics},
  year={2012},
  volume={90 1},
  pages={125-32}
}
By using whole-exome sequencing, we identified a homozygous guanine-to-adenine transition at the invariant -1 position of the acceptor site of intron 1 (c.97-1G>A) in solute carrier organic anion transporter family member 2A1 (SLCO2A1), which encodes a prostaglandin transporter protein, as the causative mutation in a single individual with primary hypertrophic osteoarthropathy (PHO) from a consanguineous family. In two other affected individuals with PHO from two unrelated nonconsanguineous… CONTINUE READING
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