Identification of novel TFG mutation in HMSN-P pedigree: Emphasis on variable clinical presentations
Identification of novel TFG mutation in HMSN-P pedigree: Emphasis on variable clinical presentations
复制标题
DOI：
10.1016/j.jns.2016.08.035
复制
发表时间：
2016-10-15
影响因子：
4.4
通讯作者：
Elahi, Elahe
中科院分区：
文献类型：
--
作者：
Khani, Marzieh;Shamshiri, Hosein;Elahi, Elahe
我们的目的是确定神经系统疾病的遗传原因，在伊朗家系的表现表明遗传性运动和感觉神经病与近端优势（HMSN-P）。在已知的HMSN-P致病基因TFG中鉴定出p.Gly269Val突变，提供了支持性证据。主观，生化，电诊断和成像数据进行了比较，与以前报道的HMSN-P患者，包括早期描述的伊朗血统的患者。尽管发现了显着的临床变异性，但在两个伊朗谱系中观察到近端和远端肌肉的受累程度相当。有趣的是，同样的p.Gly269Val突变最近被报道为导致Charcot-Marie-Tooth病2型在台湾的家系。的可能性，这两个家系与p.Gly269Val突变不受不同疾病的影响进行了讨论。第二个伊朗HMSN-P谱系的鉴定进一步证实了HMSN-P并不局限于远东。此外，迄今为止在HMSN-P患者中报道的唯一TFG突变p.Pro285Leu并不是唯一可以引起该疾病的突变。强调HMSN-P是一种神经元病。(C)2016爱思唯尔B. V.保留所有权利。
We aimed to identify the genetic cause of neurological disease in an Iranian pedigree whose manifestations suggested hereditary motor and sensory neuropathy with proximal predominance (HMSN-P). Identification of a p.Gly269Val mutation in TFG, the known HMSN-P causative gene, provided supportive evidence. Subjective, biochemical, electrodiagnostic, and imaging data were compared with previously reported HMSN-P patients, including patients of an earlier described Iranian pedigree. Although notable clinical variability was found, comparable involvement of proximal and distal muscles was observed in both Iranian pedigrees. Interestingly, the same p.Gly269Val mutation was recently reported as cause of Charcot-Marie-Tooth disease type 2 in a Taiwanese pedigree. The likelihood that the two pedigrees with the p.Gly269Val mutation are not affected with different diseases is discussed. Identification of a second Iranian HMSN-P pedigree further confirms that HMSN-P is not confined to the Far East. Furthermore, p.Pro285Leu that has been the only TFG mutation thus far reported in HMSN-P patients is not the only mutation that can cause the disease. It is emphasized HMSN-P is a neuronopathy. (C) 2016 Elsevier B.V. All rights reserved.