Abstract:

Ding Chenzhao, Ren Lei, Yue Hao, Li Jing, Zhao Tianxue, Qin Guijun Department of Endocrinology, First Affiliated Hospital of Zhengzhou University, Henan Clinical Center for Endocrine and Metabolic Diseases, Zhengzhou 450052, China Corresponding author: Qin Guijun, Email: hyqingj@zzu.edu.cn 【Abstract】 Objective To confirm a case of pachydermoperiostosis （primary hypertrophic osteoarthropathy） at the molecular level by gene sequencing. Methods Peripheral blood samples were obtained from a 26-year-old male patient with pachydermoperiostosis and his parents, and DNA was extracted from these blood samples. Polymerase chain reaction （PCR） was performed to amplify all the exons of HPGD and SLCO2A1 genes, and gene sequencing to identify gene mutations. According to sequencing results, the spatial structure of relevant proteins was predicted. Results Gene sequencing showed a homozygous frame-shifting mutation c.310_311delCT （p.L104AfsX3） in exon 3 of the HPGD gene in the patient. His mother was a heterozygous carrier of the mutation, but no mutation was identified in his father. The prediction of spacial structure of proteins revealed that the above gene mutation could shorten the length of the encoded peptide by about 60%. Conclusion Typical clinical manifestations and imaging findings are helpful for the primary diagnosis of pachydermoperiostosis, while mutation analysis of HPGD and SLCO2A1 genes is a main approach to its final diagnosis.