期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 90, 期 1, 页码 125-132出版社
CELL PRESS
DOI: 10.1016/j.ajhg.2011.11.019
关键词
-
资金
- National Natural Science Foundation of China [81170803, 81070692, 81000360, 30771019, 30800387]
- Program of Shanghai Subject Chief Scientist [08XD1403000]
- Science and Technology Commission of Shanghai Municipality [10D21950100, 08411963100]
- Shanghai Rising-Star Program [11QA1404900]
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 families, we identified two different compound heterozygous mutations by using Sanger sequencing. These findings confirm that SLCO2A1 mutations inactivate prostaglandin E(2) (PGE(2)) 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.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据