假性软骨发育不全的临床特点和COMP基因突变分析  

Clinical characteristics of pseudoachondroplasia and analysis of COMP gene mutation

作　　者：梁寒婷 苗卉 潘慧 阳洪波 陈适 龚凤英 王林杰 朱惠娟 Liang Hanting;Miao Hui;Pan Hui;Yang Hongbo;Chen Shi;Gong Fengying;Wang Linjie;Zhu Huijuan(Translational Medicine Center,Key Laboratory of Endocrinology of National Health Commission,Department of Endocrinology,Peking Union Medical College Hospital,Chinese Academy of Medical Science and Peking Union Medical College,Beijing 100730,China)

机构地区：[1]中国医学科学院,北京协和医学院,北京协和医院内分泌科,卫健委内分泌重点实验室,转化医学中心,北京100730

出　　处：《中华内分泌代谢杂志》2019年第12期1006-1013,共8页Chinese Journal of Endocrinology and Metabolism

基　　金：国家重点研发计划(2016YFC091501);中国医学科学院医学与健康科技创新工程(CAMS-2016-I2M-1-002、CAMS-2016-I2M-1-008)。

摘　　要：目的本文报道2例假性软骨发育不全患者的临床特征及基因突变情况,并回顾文献,以期促进临床医生对该疾病的认识。方法对2例就诊于本院的"矮小症伴骨骼畸形"患者进行病例总结及全外显子测序,并查阅文献,对所有已报道的中国假性软骨发育不全患者临床特点及已知基因研究进展进行总结。结果2例患者的临床特点为短肢矮小伴骨骼畸形,通过基因检测发现二者的软骨寡聚基质蛋白(COMP)基因均存在杂合突变,分别为c.1417_1419delGAC、c.1552G>A。截至2019年3月,国内已报道假性软骨发育不全共58例,此类患者身高中位数为-5.03 SDS,临床特征包括步态异常,短肢,短指/趾,脊柱侧弯、手镯征、脚镯征等骨骼畸形。COMP是致病基因,突变主要集中于钙调蛋白样结构域,热点突变为c.1417_1419delGAC。结论假性软骨发育不全是一类以矮小伴骨骼畸形为特征的罕见病。通过对该病的临床及基因特点进行总结,以期提高早期诊断率。Objective This article reported the clinical characteristics and gene mutations of two pseudoachondroplasia cases,and made a literature review in order to improve clinicians′understanding of the disease.Methods Clinical features of two patients who were short stature accompanied with skeletal deformities were summarized,and they accepted whole exome sequencing.We also reviewed literature to summarize the clinical characteristics and known gene research progress of all reported Chinese pseudoachondroplasia cases.Results The two patients′clinical characteristics were short limbdwarfism with skeletal deformity.Genetic results showed that there were two heterozygous mutations in the cartilage oligomeric matrix protein(COMP)gene of the two patients,c.1417_1419delGAC and c.1552G>A,respectively.Up to March 2019,a total of 58 cases of pseudoachondroplasia have been reported in China.The median height of these patients is-5.03 SDS.The clinical features include abnormal gait,short limbs,short fingers/toes,scoliosis,bracelet sign,ankle sign and other skeletal deformities.COMP is the pathogenic gene and mutations mainly located in calmodulin-like domains.The hotspot mutation is c.1417_1419delGAC.Conclusions Pseudoachondroplasia is a kind of rare genetic disease characterized by short stature and skeletal deformities.The clinical and genetic characteristics of the disease were summarized,which may improve the early diagnosis rate.

关 键 词：假性软骨发育不全 软骨寡聚基质蛋白 基因突变 分子机制 

分 类 号：R6[医药卫生—外科学]