Clubbing gene identified

25 May 2008

Primary hypertrophic osteoarthropathy (PHO), also known as pachydermoperiostosis, is a mendelian inherited form of finger clubbing, the familiar clinical sign that usually occurs secondary to lung cancer, cyanotic congenital heart disease, or any of a host of other serious pathological processes. By autozygosity mapping, the group of Chris Bennett, David Bonthron and colleagues have shown that PHO is a disorder of prostaglandin metabolism, caused by deficiency of the enzyme 15-hydroxyprostaglandin dehydrogenase (HPGD). These findings give insight into the likely role of prostaglandins in mediating secondary clubbing.

Uppal S, Diggle CP, Carr IM, Fishwick CWG, Ahmed M, Ibrahim GH, Helliwell PS, Latos-Bielenska A, Phillips SEV, Markham AF, Bennett CP, Bonthron DT (2008) Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. Nature Genet 40:789–783 (doi:10.1038/ng.153).
Nature Genetics website