Progress in genetic research on pachydermoperiostosis.
10.3760/cma.j.issn.1003-9406.2016.01.025
- Author:
Ran DU
1
;
Liangliang FAN
;
Hao HUANG
;
Rong XIANG
Author Information
1. State Key Laboratory of Medical Genetics, School of Life Science, Central South University, Changsha, Hunan 410013, China. shirlesmile@csu.edu.cn.
- Publication Type:Journal Article
- MeSH:
Animals;
Humans;
Hydroxyprostaglandin Dehydrogenases;
genetics;
Organic Anion Transporters;
genetics;
Osteoarthropathy, Primary Hypertrophic;
diagnosis;
genetics;
therapy;
Phenotype
- From:
Chinese Journal of Medical Genetics
2016;33(1):105-107
- CountryChina
- Language:Chinese
-
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.
