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) 基因的突变可导致肌萎缩性侧索硬化症4 (ALS4),这是一种常染色体显性遗传形式的少年性肌萎缩性侧索硬化症,或导致常染色体隐性遗传性共济失调并伴有动眼失用2型。对于可能的疾病原因,尤其是错义变异,必须谨慎行事。在这里,我们评估了所有先前报道的SETX错义突变以及54例怀疑患有als4的患者中新发现的六个变异的重要性。然而,流行病学和计算机证据表明,所有新发现的变异和两个先前发表的ALS4-related错义变异 (C1554G和I2547T) 最有可能是非致病性的,证明了在缺乏功能测定的情况下解释SETX错义等位基因的问题。

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