We report a case of a 13-year-old boy with arginase 1 deficiency carrying a new variant in ARG1. Sanger sequencing identified the compound heterozygous variants: NM_000045.4: c.365G>A (p.Trp122*)/c.820G>A (p.Asp274Asn). Although not previously reported, the p.Asp274Asn variant is predicted to have strong pathogenicity because it is located in a highly conserved domain in the protein core and arginase activity in the patient was below measurement sensitivity.

中文翻译：

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在精氨酸酶 1 缺乏症患者中发现新的 ARG1 变体

我们报告了13年的情况下-与精氨酸酶1缺乏携带一个新的变种老男孩ARG1。Sanger测序鉴定出复合杂合变体：NM_000045.4：c.365G>A (p.Trp122*)/c.820G>A (p.Asp274Asn)。虽然以前没有报道过，但预计 p.Asp274Asn 变体具有很强的致病性，因为它位于蛋白质核心的高度保守结构域中，并且患者中的精氨酸酶活性低于测量灵敏度。