Currarino综合征基因研究进展  

Gene research of Currarino Syndrome

作　　者：高擎 李龙[1] GA;LI Long(General（Pediatrics）Surgery Department,Children＇s Hospital Affiliated to the Capital Institute of Pediatrics,Beijing,100020,China)

机构地区：[1]首都儿科研究所附属儿童医院普通(新生儿)外科,北京100020

出　　处：《职业与健康》2018年第17期2434-2439,共6页Occupation and Health

基　　金：北京市卫生系统高层次卫生技术人才培养计划(2013-2-030)

摘　　要：Currarino综合征是一种罕见的常染色体显性遗传病。其较低的发病率及多变的表现型已成为临床诊断的一大难点。科学研究者们发现运动神经元与胰腺同源基因(motor neuron and pancreas homeobox 1,MNX1)与Currarino综合征的发病存在密切关系。文章回顾了1996—2017年间关于Currarino综合征患者MNX1基因突变位点的报道,并综述了近年来Currarino综合征基因表型关系及新基因的探索。现阶段Currarino综合征的研究仍处于起始阶段且MNX1尚不能完全解释该病的发病机制。Currarino Syndrome（CS） is a rare autosomal dominant disorder. The low morbidity and variable manifestation have already been a difficulty of diagnosis. Researchers have found there is a close relationship between gene MNX1（motor neuron and pancreas homeobox 1） and CS. This review retrospects all reported MNX1 mutations during 1996 to 2017, describes the relationship between genotype and phenotype and summarizes discovery of new gene in recent years. Now, the research of CS is still in initial phase and MNX1 can not explain the pathogenesis.

关 键 词：CURRARINO综合征 MNX1 基因表型关系 新基因 

分 类 号：R394[医药卫生—医学遗传学]