腓骨肌萎缩症4型遗传学研究进展

doi:10.16288/j.yczz.14-412

遗传 ›› 2015, Vol. 37 ›› Issue (6): 501-509.doi: 10.16288/j.yczz.14-412

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腓骨肌萎缩症4型遗传学研究进展

许烨¹, 张嘉莹¹, 杨博宇¹, 何志宏¹, 张慕晨¹, 于珍², 顾鸣敏²

1. 上海交通大学医学院,上海 200025;
2. 上海交通大学医学院医学遗传学教研室,上海 200025

收稿日期:2014-11-25 修回日期:2015-03-25 出版日期:2015-06-20 发布日期:2015-06-20
通讯作者: 顾鸣敏,教授,硕士生导师,研究方向：遗传病的基因定位和功能研究。E-mail: gumm@sjtu.edu.cn
作者简介:许烨,临床医学专业八年制学生,专业方向：临床医学。E-mail: 136965680@qq.com
基金资助:
国家自然科学基金项目(编号：30470951, 31071107)资助

Advances in genetic studies of Charcot-Marie-Tooth disease type 4 (CMT4)

Ye Xu¹, Jiaying Zhang¹, Boyu Yang¹, Zhihong He¹, Muchen Zhang¹, Zhen Yu², Mingmin Gu²

1. School of Medicine, Shanghai Jiao Tong University Shanghai 200025, China;
2. Department of Medical Genetics, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China

Received:2014-11-25 Revised:2015-03-25 Online:2015-06-20 Published:2015-06-20

摘要/Abstract

摘要： 腓骨肌萎缩症也称夏科-马利-杜斯氏病(Charcot-Marie-Tooth disease, CMT),是人类最常见的遗传性周围神经病之一,其遗传方式以常染色体显性遗传为主,也有部分呈常染色体隐性遗传或X连锁显性或隐性遗传。根据临床表型将CMT分为脱髓鞘型(CMT1)、轴突型(CMT2)和中间型（DI-CMT）。常染色体隐性遗传的CMT1(AR-CMT1,也称CMT4型)临床表现除了CMT常见的四肢远端进行性肌无力和萎缩,以及高足弓和爪形手外,常起病早,进展迅速,并有不同程度的感觉障碍和脊柱畸形(以脊柱侧凸为主)。近年来的研究显示,CMT4有11种亚型,其中有些亚型的致病机制较明确,有些亚型存在建立者突变,有些亚型还局限在临床描述和突变检出上。文章综述了CMT4的最新研究进展,包括各亚型的临床表现、致病机制和小鼠模型等。

关键词: 腓骨肌萎缩症, CMT4型, 致病机制, 小鼠模型

Abstract: The Charcot-Marie-Tooth disease (CMT) is one of the most common human inherited peripheral neuropathies. The most common pattern of inheritance is autosomal dominant, with less often occurrence autosomal recessive and X-linked dominant/recessive inheritance. CMT is generally divided into three forms: demyelinating forms (CMT1), axonal forms (CMT2) and intermediate forms (DI-CMT). The autosomal recessive form (AR-CMT1 or CMT4) is accompanied by progressive distal muscle weakness and atrophy of the limbs, pes cavus and claw-like hands. In addition, CMT4 is also characterized by early onset, rapid progression, and varying degrees of sensory loss and spinal deformities (e.g. scoliosis). Recently, 11 subtypes of CMT4 have been identified. Some of these subtypes were clear in pathogenic mechanisms, some had founder mutation, but some still had limited clinical description and mutation analysis. In this review, we summarize the latest research progresses of CMT4, including genotypes and phenotypes, pathogenic mechanisms and mouse models.

Key words: Charcot-Marie-Tooth disease, CMT type 4, pathogenic mechanism, mouse model

许烨, 张嘉莹, 杨博宇, 何志宏, 张慕晨, 于珍, 顾鸣敏. 腓骨肌萎缩症4型遗传学研究进展[J]. 遗传, 2015, 37(6): 501-509.

Ye Xu, Jiaying Zhang, Boyu Yang, Zhihong He, Muchen Zhang, Zhen Yu, Mingmin Gu. Advances in genetic studies of Charcot-Marie-Tooth disease type 4 (CMT4)[J]. HEREDITAS(Beijing), 2015, 37(6): 501-509.

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腓骨肌萎缩症4型遗传学研究进展

Advances in genetic studies of Charcot-Marie-Tooth disease type 4 (CMT4)

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