单纯性并/多指(趾)畸形的临床分型及遗传研究进展  

作　　者：蒲思宇 陈静[1] 向波[1] 江君[1] 

机构地区：[1]四川大学华西医院小儿外科,四川大学华西医院小儿外科研究室,成都610041

出　　处：《妇产与遗传（电子版）》2021年第4期44-51,共8页Obstetrics-Gynecology and Genetics (Electronic Edition)

摘　　要：单纯性并/多指(趾)畸形为最常见的遗传性肢体畸形,多由单基因突变所致,不同突变位点引起不同调控信号的改变,对应各自差异化的临床表型。近年来,关于肢体发育和指(趾)畸形的研究已经越发深入,多个重要调节通路被阐明,例如BMP、WNT、ZRS/SHH等。本文综述了当前单纯性并/多指(趾)畸形的临床分型及所对应表型的分子遗传研究进展,并介绍了介导远端肢体(手脚)畸形的信号通路及相应的调控机制。旨在提高对这种复杂疾病的认识,增进对胚胎肢体发育过程的了解,也为相应表型家系的遗传咨询、筛查、诊断提供参考,促进优生优育。Non-syndromic syndactyly and polydactyly are the most common inherited limb abnormalities,mostly caused by single gene mutation.Different mutation results in different signaling pathway disturbance,corresponding to various clinical phenotypes.Over the years,there are more indepth studies on the development of limb and finger(toe)deformity,and several crucial regulatory pathways have been clarified,including BMP,WNT,FGF and SHH signaling pathways.In this paper,we review the present classification of non-syndromic syndactyly and polydactyly,and summarize the progress in the molecular genetics,the signaling pathways and the regulatory mechanisms.It is hoped that it will be helpful to improve the understanding of these complex diseases,as well as the understanding of limb development process.It will also contribute to the genetic consultation,screening and diagnosis of syndactyly and polydactyly families,so as to promote aristogenesis and stirpiculture.

关 键 词：并指 多指 分子遗传学 信号通路 信号分子 

分 类 号：R361.2[医药卫生—病理学]