1例HPGD基因新缺失突变致儿童原发性肥大性骨关节病报道  

A Chinese girl with primary hypertrophic osteoarthropathy(PHO) caused by homozygous novel deletion in HPGD

作　　者：刘霜[1] 仇佳晶[1] 孟岩[1] 邱正庆[1] 

机构地区：[1]中国医学科学院 北京协和医学院 北京协和医院儿科,北京100730

出　　处：《基础医学与临床》2012年第6期656-659,共4页Basic and Clinical Medicine

基　　金："十一五"国家科技支撑计划项目(2006BAI05A07);北京市科技计划项目(D0906005040491)

摘　　要：目的通过对1例临床疑似原发性肥大骨关节病的患者进行HPGD基因分析并确诊,提高对该疾病的认识。方法根据患儿症状,体征及骨骼系统放射学检查进行临床诊断,提取患儿及其父亲外周血DNA,PCR扩增HPGD基因编码氨基酸的7个外显子片段,测序检测突变。结果患儿女性,5岁,具有手指及足趾末端指节肥大,手足多汗,前额皮肤增厚等典型临床表现。PCR扩增片段直接测序示患儿HPGD外显子3发生c.308_309delCT(p.Thr103Thrfs4X)纯合改变。结论原发性肥大骨关节病为一种少见的常染色体隐性遗传疾病,典型的临床及影像学表现有助于诊断,HPGD基因突变分析是确诊的主要方法。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.Conclusions Test for mutation of HPGD can identify the diagnosis of PHO patients.Clinical manifestation,biochemical testing and X ray may help to make a diagnosis of PHO,testing the HPGD mutation can identify it.

关 键 词：原发性肥大骨关节病 厚皮性骨膜病 杵状指 HPGD基因 突变 

分 类 号：R726.8[医药卫生—儿科]