摘要
Ⅱ型胶原病是由于COL2A1基因变异导致的一大类骨骼-软骨发育异常的疾病。COL2A1基因位于常染色体12q13.11-q13.2上,主要编码合成Ⅱ型胶原蛋白。COL2A1突变导致各种骨骼异常、口面部特殊体征和眼部、听觉损害,各类型疾病表现形式广泛,基因-表型相关性尚不明确。本文综述COL2A1突变导致骨骼-软骨发育异常的疾病临床表型和相关变异,同时对目前的诊治进展进行阐述。
Type Ⅱ collagenopathies is a kind of bone-cartilage dysplasia caused by COL2A1 gene mutation,which is located on autosomal 12q13.11-q13;2,and mainly encodes the synthesis of type II collagen.COL2A1 mutation results in various skeletal abnormalities,oral-facial features and ocular auditory impairment.Various types of disease manifestations are extensive,the genotype-phenotype correlation is unclear.In this review,we summarize the clinical phenotypes and related COL2A1 mutations leading to bone-cartilage dysplasia,and summarize the current progress in diagnosis and treatment.
作者
何琴
吴蔚
HE Qin;WU Wei(Department of Endocrine,National Clinical Research Center for Child Health,Children's Hospital of Zhejiang University School of Medicine,Hangzhou 310000,China;Department of Pediatric,The General Hospital of Shaoxing Second Hospital Medical Community,Shaoxing 312000,Zhejiang,China)
出处
《中华骨质疏松和骨矿盐疾病杂志》
CSCD
北大核心
2023年第2期180-188,共9页
Chinese Journal Of Osteoporosis And Bone Mineral Research
基金
十四五国家重点研发计划生育健康及妇女儿童健康保障专项(2022YFC2703504)。
