HPGD基因缺失突变致厚皮性骨膜病一例

目的 通过基因测序，在分子水平确诊厚皮性骨膜病1例。 方法 收集1例26岁男性厚皮性骨膜病患者及其父母外周血DNA，PCR扩增HPGD及SLCO2A1基因外显子片段，通过基因测序查找有无突变。根据测序结果进行蛋白质空间结构的同源性分析。 结果 基因测序结果显示，患者HPGD基因第3外显子存在移码突变c.310_311delCT（p.L104AfsX3），为纯合子，其母为该突变的杂合子携带者，其父正常。蛋白空间结构预测显示，上述基因突变可使编码蛋白缩短60%。 结论 厚皮性骨膜病的典型临床表现及影像学表现有助于诊断，HPGD、SLCO2A1基因突变测定则是确诊的主要方法。

A case of pachydermoperiostosis caused by a deletion mutation in the HPGD gene

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_31 1delCT (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.