3M综合征致病机制的研究进展  

Research progress in pathogenesis of 3M syndrome

作　　者：付鹏九 张亚男[1] 胡芳瑞 李慧 段秦利 张会丰[1] Fu Pengjiu;Zhang Yanan;Hu Fangrui;Li Hui;Duan Qinli;Zhang Huifeng(Department of Pediatrics,the Second Hospital of Hebei Medical University,Shijiazhuang 050000,China)

机构地区：[1]河北医科大学第二医院儿科,石家庄050000

出　　处：《国际遗传学杂志》2022年第3期220-226,共7页International Journal of Genetics

摘　　要：3M综合征是一种罕见的骨骼线性生长障碍的遗传病,其与许多其他原始身材矮小综合征不同,它是一种与生长相关的疾病。3M综合征主要由CUL7、CCDC8、OBSL1基因突变所引起的,且CUL7、CCDC8和OBSL1可能共属于同一个未知的潜在的分子或(和)细胞机制调控的生长发育的进程。现结合近几年国内外研究进展,阐述相关基因突变引起的3M综合征致病机制,旨在为研究3M综合征致病机制提供新的研究方向和研究基础。3M syndrome is a rare genetic disorder of linear bone growth.Unlike many other primitive short stature syndromes,3M syndrome is a growth-related disorder.3M syndrome is mainly caused by mutations in CUL7,CCDC8 and OBSL1 genes,and CUL7,CCDC8 and OBSL1 may all belong to the same unknown potential molecular and/or cellular mechanism regulated growth and development process.Based on the recent research progress at home and abroad,the pathogenic mechanism of 3M syndrome caused by related gene mutations is expounded,aiming to provide a new research direction and research basis for the research on the pathogenic mechanism of 3M syndrome.

关 键 词：3M综合征 CUL7 CCDC8 OBSL1 

分 类 号：R596[医药卫生—内科学]