FBN2基因突变导致远端型多关节挛缩的研究进展  

Research progress of distal arthrogryposis caused by FBN2 mutation

作　　者：周家腾 王斌[1] ZHOU Jiateng;WANG Bin(Department of Plastic and Reconstructive Surgery.Shanghai Ninth People’s Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200011,China)

机构地区：[1]上海交通大学医学院附属第九人民医院整复外科,上海市200011

出　　处：《组织工程与重建外科》2024年第6期702-706,共5页Journal of Tissue Engineering and Reconstructive Surgery

基　　金：国家重点研发计划(2022YFC2703700,2022YFC2703704);国家自然科学基金(82471886);上海市科学技术委员会临床医学研究中心项目(22MC1940300);上海交通大学医学院附属第九人民医院先天性肢体畸形生物样本库建设项目(YBKB202108);罕见病注册登记项目(JYHJB202205)。

摘　　要：远端型多关节挛缩是一组具有遗传异常的先天性畸形,FBN2基因突变导致远端型多关节挛缩9型。不同于肌肉组织受累的其他亚型,FBN2基因突变主要影响结缔组织的胚胎发育,引起独特的临床表型。迄今为止,该病的具体致病机制尚未阐明。本文总结了远端型多关节挛缩9型的近期研究进展,以提高对该病发生发展的理解。随着基因测序技术的进步和普及,有望发现更多突变位点及患者人群,以明确基因型-表型关联。此外,尚需推动构建合适的细胞和动物模型,以进一步阐述其致病机制,为疾病的诊疗干预提供新的方向。Distal arthrogryposis represents a group of congenital malformations with genetic factors,and distal arthrogryposis type 9 is attributed to mutations in the FBN2 gene.Differing from other subtypes where muscular tissues are affected,FBN2 gene mutation primarily impacts the embryonic development of connective tissues,giving rise to distinctive clinical phenotypes.To date,the specific pathogenic mechanisms of this condition remain elusive.In this paper,the recent research progress of distal arthrogryposis type 9 was reviewed,aiming to enhance our understanding of the disease.With the advancement and widespread use of sequencing technologies,the potential discovery of additional mutation loci and patient cohorts holds promise for elucidating genotype-phenotype correlations.Furthermore,there is a pressing need to promote the development of appropriate cellular and animal models to further elucidate its pathogenic mechanisms,offering novel avenues for disease diagnosis and therapeutic interventions.

关 键 词：远端型多关节挛缩 FBN2 致病机制 

分 类 号：R596.2[医药卫生—内科学]