Clinical characteristics of pseudoachondroplasia and analysis of COMP gene mutation
10.3760/cma.j.issn.1000-6699.2019.12.003
- VernacularTitle: 假性软骨发育不全的临床特点和COMP基因突变分析
- Author:
Hanting LIANG
1
;
Hui MIAO
;
Hui PAN
;
Hongbo YANG
;
Shi CHEN
;
Fengying GONG
;
Linjie WANG
;
Huijuan ZHU
Author Information
1. 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
- Publication Type:Journal Article
- Keywords:
Pseudoachondroplasia;
Cartilage oligomeric matrix protein;
Gene mutation;
Molecular mechanism
- From:
Chinese Journal of Endocrinology and Metabolism
2019;35(12):1006-1013
- CountryChina
- Language:Chinese
-
Abstract:
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.
