Abstract: Abstract：Objective Primary hypertrophic osteoarthropathy, associated with mutations in HPGD gene, is a rare autosomal recessive disorder. The authors report the clinical characterization and the novel mutation in HPGD of a Chinese girl with PHO in order to improve the clinical recognition of this disease. Methods Total genomic DNA was extracted from peripheral blood leukocytes of the patient and her father. The HPGD exons 1-7 were amplified by polymerase chain reaction (PCR) and were analyzed by direct sequencing. Review previously published literature about HPGD mutations. Results A novel homozygous mutation c.308_309delCT（p.Thr103Thrfs4X）was identified in the patient, who is a 5 years girl with PHO manifest characteristic digital clubbing, furrowing of the skin of the face and hyperhidrosis etc. Conclusion Testing for mutation of HPGD can identified the diagnosis of PHO patients. Clinical manifestation, biochemical testing and X ray can help to make a diagnosis of PHO ,Testing the HPGD mutation can identify it.

Key words: Primary hypertrophic osteoarthropathy, Pachydermoperiostosis, Digital clubbing, HPGD, Mutation