Here, the pathogenesis of an IFIH1 gene mutation is discussed through the analysis of a sporadic case of hereditary spastic paraplegia. Next-generation sequencing was performed for the patient and his family members to detect mutations at the IFIH1 locus. The patient and his father were found to carry the same heterozygous missense mutation (c.1093A > G; p.Gly495Arg), while the patient’s mother does not carry this mutation. This is the first report of this heterozygous IFIH1 mutation and it is predicted to be disease-causing.

中文翻译：

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与罕见 IFIH1 突变相关的遗传性痉挛性截瘫：病例报告和文献综述

在这里，通过对散发性遗传性痉挛性截瘫病例的分析，讨论了 IFIH1 基因突变的发病机制。对患者及其家属进行了下一代测序，以检测 IFIH1 基因座的突变。发现患者和他的父亲携带相同的杂合错义突变（c.1093A > G；p.Gly495Arg），而患者的母亲没有携带这种突变。这是这种杂合 IFIH1 突变的第一份报告，预计它会导致疾病。