Charcot-Marie-Tooth disease subtypes and genetic testing strategies.
Charcot-Marie-Tooth disease subtypes and genetic testing strategies.
复制标题
DOI：
10.1002/ana.22166
复制
发表时间：
2011-01
影响因子：
11.2
通讯作者：
Shy, Michael E.
中科院分区：
文献类型：
--
作者：
Saporta, Anita S. D.;Sottile, Stephanie L.;Miller, Lindsey J.;Feely, Shawna M. E.;Siskind, Carly E.;Shy, Michael E.
Charcot Marie Tooth病(CMT)影响每2500人中就有一人，由30多个基因突变引起。确定CMT的遗传原因对于计划生育、自然历史研究和进入临床试验通常是必要的。然而，基因检测对患者和医生来说既昂贵又令人困惑。我们分析了1024名患者的数据，以确定每个CMT亚型在临床人群中的百分比和特征。我们确定了亚型的不同临床和生理特征，可用于指导CMT患者的基因检测。在1024名接受评估的患者中，787人接受了CMT诊断。527名CMT患者(67%)接受了基因亚型，而260名患者没有发现突变。最常见的CMT亚型为CMT1A、CMT1X、HNPP、CMT1B和CMT2A型。所有其他亚型各占不到1%。11名患者具有一种以上遗传亚型的CMT。根据发病年龄和运动神经传导速度减慢的程度，遗传性CMT患者可分为特定的组。结合表型组和生理学组的特征，我们可以确定哪些患者极有可能患有特定的CMT亚型。基于这些结果，我们提出了一种针对CMT的重点基因测试策略，如作为测试指南创建的一系列流程图所示。
Charcot Marie Tooth disease (CMT) affects one in 2500 people and is caused by mutations in more than 30 genes. Identifying the genetic cause of CMT is often necessary for family planning, natural history studies and for entry into clinical trials. However genetic testing can be both expensive and confusing to patients and physicians. We analyzed data from 1024 of our patients to determine the percentage and features of each CMT subtype within this clinic population. We identified distinguishing clinical and physiological features of the subtypes that could be used to direct genetic testing for patients with CMT. Of 1024 patients evaluated, 787 received CMT diagnoses. Five hundred twenty-seven patients with CMT (67%) received a genetic subtype, while 260 did not have a mutation identified. The most common CMT subtypes were CMT1A, CMT1X, HNPP, CMT1B, and CMT2A. All other subtypes accounted for less than 1% each. Eleven patients had more than one genetically identified subtype of CMT. Patients with genetically identified CMT were separable into specific groups based on age of onset and the degree of slowing of motor nerve conduction velocities. Combining features of the phenotypic and physiology groups allowed us to identify patients who were highly likely to have specific subtypes of CMT. Based on these results, we propose a strategy of focused genetic testing for CMT illustrated in a series of flow diagrams created as testing guides.
登录
查看更多内容
影响因子：
9.9
作者：
Shy, M. E.;Chen, L.;McDermott, M. P.
通讯作者：
McDermott, M. P.
DOI：
10.1107/s1600536802001824
发表时间：
2002-03-01
影响因子：
0.9
作者：
Li, JR;Yan, Z;Bu, XH
通讯作者：
Bu, XH
影响因子：
14.5
作者：
Krajewski, KM;Lewis, RA;Shy, ME
通讯作者：
Shy, ME
影响因子：
5.3
作者：
Kijima, K;Numakura, C;Hayasaka, K
通讯作者：
Hayasaka, K
影响因子：
14.5
作者：
HARDING, AE;THOMAS, PK
通讯作者：
THOMAS, PK