Clinical features and gene mutation analysis of COMP in eight patients with pseudoachondroplasia
10.3760/cma.j.issn.1000-6699.2019.01.007
- VernacularTitle:八例假性软骨发育不良患者的临床特征及COMP基因突变分析
- Author:
Shanshan LYU
1
;
Chun WANG
;
Zhenlin ZHANG
Author Information
1. 上海交通大学附属第六人民医院骨质疏松和骨病专科
- Keywords:
Pseudoachondroplasia;
Clinical features;
Cartilage oligomer matrix protein;
Gene mutation
- From:
Chinese Journal of Endocrinology and Metabolism
2019;35(1):37-41
- CountryChina
- Language:Chinese
-
Abstract:
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 gene 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 beaking 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.
