The identification of mutations in NAXD in six cases from the six families reported by Van Bergen et al. (2019) was the first-ever report of the association of the NAXD gene with a mitochondrial disorder. The affected individuals presented with fever-induced, severe multisystem diseases with repeated episodes of skin lesions, and died within the first decade of life (Van Bergen et al., 2019). The article described the compelling evidence of the pathogenicity of NAXD variants. Later, Zhou et al. (2020) described a patient with NAXD novel biallelic mutations with a phenotype like that in the previous article (Zhou et al., 2020). Herein, we describe another case with NAXD biallelic protein-truncating mutations, one of which is novel (c.44delG; p.Arg15Glnfs*3) and the other previously reported (c.51_54delAGAA; p.Ala20Phefs*9), in a Japanese patient with a neurodevelopmental disorder, autism spectrum disorder (ASD) and a muscular-dystrophy-like myopathy.

中文翻译：

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NAD（P）HX脱水酶蛋白截短突变与急性疾病加重的神经发育障碍有关。

Van Bergen等报道的六个家族中的六个案例中NAXD突变的鉴定。（2019）是NAXD基因与线粒体疾病相关性的首次报道。受影响的个体表现为发烧引起的严重多系统疾病，反复出现皮肤病变，并在生命的最初十年内死亡（Van Bergen等，2019）。这篇文章描述了NAXD变异的致病性的有力证据。后来，周等人。（2020）描述了一个患者，该患者具有NAXD新的双等位基因突变，其表型与之前的文章相同（Zhou et al。（2020年）。在这里，我们描述了另一种带有NAXD双等位基因截断蛋白突变的情况，其中一种是新的（c.44delG； p.Arg15Glnfs * 3），另一种先前报道的（c.51_54delAGAA； p.Ala20Phefs * 9）。神经发育障碍，自闭症谱系障碍（ASD）和肌肉营养不良样肌病的患者。