Article
Mutations in the prostaglandin transporter encoding gene SLCO2A1 cause primary hypertrophic osteoarthropathy and isolated digital clubbing.
Human mutation - 1 Apr 2012
Seifert Wenke, Kühnisch Jirko, Tüysüz Beyhan, Specker Christof, Brouwers Ad, Horn Denise
Abstract excerpt
Digital clubbing is usually secondary to different acquired diseases. Primary hypertrophic osteoarthropathy (PHO) is a rare hereditary disorder with variable digital clubbing as the most prominent feature, subperiosteal new bone formation, and arthropathy. Recently, mutations in the 15-hydroxy-prostaglandin dehydrogenase (15-PGDH) encoding gene HPGD were found to cause PHO. Here, we identified three unrelated...
Topics
- Adult
- Consanguinity
- Dinoprostone
- Female
- Frameshift Mutation
- Heterozygote
- Humans
- Hydroxyprostaglandin Dehydrogenases
- Male
- Mutation
- Mutation, Missense