Mutations in the senataxin (SETX) gene can cause amyotrophic lateral sclerosis 4 (ALS4), an autosomal dominant form of juvenile onset amyotrophic lateral sclerosis, or result in autosomal recessive ataxia with oculomotor apraxia type 2. Great caution regarding the possible disease causation, especially of missense variations, has to be taken. Here, we evaluated the significance of all previously reported SETX missense mutations as well as six newly identified variations in 54 patients suspected of having ALS4. Yet, epidemiologic and in silico evidence indicates that all newly identified variations and two previously published ALS4-related missense variations (C1554G and I2547T) are most likely non-pathogenic, demonstrating the problems of interpretation of SETX missense alleles in the absence of functional assays.

译文

:senataxin(SETX)基因的突变可引起肌萎缩性侧索硬化4(ALS4),这是一种常染色体显性形式的青少年发作性肌萎缩性侧索硬化,或导致常染色体隐性共济失调并伴有2型动眼性运动失用。特别是错义的变化,必须采取。在这里,我们评估了54位怀疑患有ALS4的患者中所有先前报道的SETX错义突变以及6个新近发现的变异的重要性。然而,流行病学和计算机病学证据表明,所有新发现的变异和两个先前发布的与ALS4相关的错义变异(C1554G和I2547T)极有可能是非致病性的,这表明在缺乏功能检测的情况下,SETX错义等位基因的解释存在问题。

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