title: [Progress in genetic research on pachydermoperiostosis].
abstract: Pachydermoperiostosis is a rare genetic disease characterized by finger clubbing, periostosis, cutis verticis gyrata and pachydermia accompanied by acroosteolysis and hyperhidrosis. Recently, two susceptibility genes, HPGD and SLCO2A1, have been identified, whose protein products are involved in the transportation of prostaglandin and metabolism underlying pachydermoperiostosis. Here the genetic basis of pachydermoperiostosis and its correlation with its clinical phenotype are reviewed, which may provide a reference for basic research and clinic diagnosis for the disease.
authors.affiliation: State Key Laboratory of Medical Genetics, School of Life Science, Central South University, Changsha, Hunan 410013, China. shirlesmile@csu.edu.cn.
authors.forename: Ran
authors.initials: R
authors.lastname: Du
authors.forename: Liangliang
authors.initials: L
authors.lastname: Fan
authors.forename: Hao
authors.initials: H
authors.lastname: Huang
authors.forename: Rong
authors.initials: R
authors.lastname: Xiang
mesh_terms: D000818:Animals; D006801:Humans; D006911:Hydroxyprostaglandin Dehydrogenases / Q000235:genetics; D027361:Organic Anion Transporters / Q000235:genetics; D010004:Osteoarthropathy, Primary Hypertrophic / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D010641:Phenotype
chemical_list: D027361:Organic Anion Transporters; C503526:SLCO2A1 protein, human; D006911:Hydroxyprostaglandin Dehydrogenases; C035859:15-hydroxyprostaglandin dehydrogenase