Exome Sequencing Identifies SLCO2A1 Mutations as a Cause of Primary Hypertrophic Osteoarthropathy

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• 作者：Zhenlin Zhang¹ ; ³ ; ^{zhangzhenlin2011@gmail.com} ; Weibo Xia² ; ³ ; Jinwei He¹ ; Zeng Zhang¹ ; Yaohua Ke¹ ; Hua Yue¹ ; Chun Wang¹ ; Hao Zhang¹ ; Jiemei Gu¹ ; Weiwei Hu¹ ; Wenzhen Fu¹ ; Yunqiu Hu¹ ; Miao Li¹ ; Yujuan Liu¹
• 刊名：The American Journal of Human Genetics
• 出版年：2012
• 出版时间：13 January 2012
• 年：2012
• 卷：90
• 期：1
• 页码：125-132
• 全文大小：959 K

文摘

By using whole-exome sequencing, we identified a homozygous guanine-to-adenine transition at the invariant ? position of the acceptor site of intron 1 (c.97?G>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 families, we identified two different compound heterozygous mutations by using Sanger sequencing. These findings confirm that SLCO2A1 mutations inactivate prostaglandin E₂ (PGE₂) transport, and they indicate that mutations in SLCO2A1 are the pathogenic cause of PHO. Moreover, this study might also help to explain the cause of secondary hypertrophic osteoarthropathy.