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Abstract：
Carbamoyl phosphate synthetase I (CPS1) deficiency (CPS1D), is a rare autosomal recessive disorder, characterized by life-threatening hyperammonemia. In this study, we presented the detailed clinical features and genetic analysis of two patients with neonatal-onset CPS1D carrying two compound heterozygous variants of c.1631C > T (p.T544M)/c.1981G > T (p.G661C), and c.2896G > T (p.E966X)/c622-3C > G in CPS1 gene, individually. Out of them, three variants are novel, unreported including a missense (c.1981G > T, p.G661C), a nonsense (c.2896G > T, p.E966X), and a splicing change of c.622-3C > G. We reviewed all available publications regarding CPS1 mutations, and in total 264 different variants have been reported, with majority of 157 (59.5%) missense, followed by 35 (13.2%) small deletions. This study expanded the mutational spectrum of CPS1. Moreover, our cases and review further support the idea that most (≥90%) of the mutations were \"private\" and only ∼10% recurred in unrelated families.
摘要：
氨基甲酰磷酸合成酶I（CPS1）缺乏症（CPS1D），是一种罕见的常染色体隐性遗传疾病,以危及生命的高氨血症为特征。在这项研究中,我们介绍了两名新生儿发作的CPS1D患者的详细临床特征和遗传分析，这些患者携带两个c.1631C>T的复合杂合变体（p.T544M）/c.1981G>T（p。G661C),和c.2896G>T（p。E966X)/c622-3C>CPS1基因中的G,个别。在他们当中,三个变体是新颖的，未报告，包括误解(c.1981G>T，p.G661C),胡说八道(c.2896G>T，p.E966X),和c.622-3C>G的剪接变化。我们回顾了关于CPS1突变的所有可用出版物，总共报告了264种不同的变体，157（59.5%）的大多数人都有误解，其次是35个（13.2%）小缺失。本研讨扩大了CPS1的突变谱。此外，我们的病例和综述进一步支持这样的观点,即大多数(≥90%)的突变是"私人的",只有~10%的突变在无关的家族中复发.
