SLCO2A1基因突变致厚皮性骨膜病一例

Pachydermoperiostosis with SLCO2A1 gene mutation:a case report and literature review

厚皮性骨膜病是一种罕见的遗传性疾病。本例男性患者,17岁,关节肿胀2年,体格检查发现前额横行皱纹、杵状指、鹦鹉嘴样甲、多发痤疮、毛囊炎,影像学检查提示骨皮质增厚、骨膜增厚、关节炎,高通量测序联合Sanger测序验证发现SLCO2A1基因突变,1个致病[c.941-1G>A(p.?)]的杂合变异和1个疑似致病[c.1286A>G(p.Tyr429Cys)]的杂合变异。对患者父母上述基因位点行遗传追踪,患者母亲携带c.941-1G>A(p.?),患者父亲携带c.1286A>G(p.Tyr429Cys)。给予非甾体抗炎药治疗后症状明显减轻。

Pachydermoperiostosis is a rare genetic disease.Herein,we report a 17-year-old male presented with joint swelling for 2 years.Physical examination revealed forehead transverse wrinkles,clubbing fingers,parrot-mouth-like nail,multiple acne,folliculitis.Imageological examination showed thickened bone cortex,thickened periosteum,arthritis.High-throughput sequencing combined with Sanger sequencing confirmed the mutations of SLCO2A1 gene,including one heterozygous variation[c.941-1G>A(p.?)]and one suspected pathogenic variant[c.1286A>G(p.Tyr429Cys)].Genetic detecting was performed on the above gene loci of the patient s parents,and the mother carried c.941-1G>A(p.?)and the father carried c.1286A>G(p.Tyr429Cys).The symptoms were obviously alleviated after treatment with NSAIDS.