Article
Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy.
American journal of human genetics - 13 Jan 2012
Zhang Zhenlin, Xia Weibo, He Jinwei, Zhang Zeng, Ke Yaohua, Yue Hua, Wang Chun, Zhang Hao, Gu Jiemei, Hu Weiwei, Fu Wenzhen, Hu Yunqiu, Li Miao, Liu Yujuan
Abstract excerpt
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....
Topics
- Adolescent
- Adult
- Asian People
- Base Sequence
- Child
- DNA Mutational Analysis
- Dinoprostone
- Exome
- Female
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Organic Anion Transporters