摘要
分析8例假性软骨发育不良(pseudoachondroplasia,PSACH)患者的临床特征及软骨低聚物基质蛋白(cartilage oligomer matrix protein,COMP)基因突变情况。收集5例男性和3例女性患者的临床病历资料,并采集8例先证者、17名家系成员及250名无血缘关系志愿者的外周血,进行COMP基因位点突变检测。8例患者均为散发病例,检测到COMP基因存在突变。PSACH主要表现为身材短小,韧带松弛,早发性关节炎,就诊时8例患者身高低于同龄人平均身高3个标准差,伴有四肢粗短、下肢畸形。X线摄片特征为儿童期椎体扁平,前缘舌状突出,长骨粗短;成年人可有骨性关节炎表现。对于短肢侏儒、指趾粗短及X线摄片异常的患者应怀疑PSACH,进行COMP基因突变检测可明确诊断。
The clinical features and the mutation of cartilage oligomer matrix protein (COMP )gene were analyzed in 8 patients with pseudoachondroplasia (PSACH).The clinical data and the peripheral blood from 5 male and 3 female probands,their pedigree members,and 250 unrelated volunteers were collected.Eight patients who were sporadic cases,had been detected mutation of COMP gone by DNA sequencing.PSACH is a skeletal disorder characterized by short stature,joint laxity,and early-onset osteoarthritis.The heights of 8 patients were significantly lower than the average level by 3 standard deviations,with short limbs and deformities of legs.Radiographs showed flattening of vertebrae with anterior heaking or tonguing in children and osteoarthritis in adults.As to the patients with short limb dwarfism,short toes,and abnormal radiography findings,PSACH should be suspected and could be confirmed by detection of COMP gene mutation.
作者
吕珊珊
汪纯
章振林
Lyu Shanshan;Wang Chun;Zhang Zhenlin(Department of Osteoporosis and Bone Diseases,Metabolic Bone Disease and Genetic Research Unit,Shanghai Jiao Tong University affiliated Sixth People's Hospital,Shanghai 200233,China)
出处
《中华内分泌代谢杂志》
CAS
CSCD
北大核心
2019年第1期37-41,共5页
Chinese Journal of Endocrinology and Metabolism
基金
国家自然科学基金项目(81570794).
作者简介
通信作者:章振林,Email:zhangzl@sjtu.edu.cn.
