Yan Beibei, Wang Chao, Zhang Kaihui, Zhang Haiyan, Gao Min, Lv Yuqiang, Li Xiaoying, Liu Yi, Gai Zhongtao
Neonatology Department, Qilu Children's Hospital of Shandong University, Ji'nan, China.
Shandong Freshwater Fisheries Research Institute, Ji'nan, China.
Front Genet. 2019 Aug 22;10:718. doi: 10.3389/fgene.2019.00718. eCollection 2019.
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 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 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 . Moreover, our cases and review further support the idea that most (≥90%) of the mutations were "private" and only ∼10% recurred in unrelated families.
氨甲酰磷酸合成酶I（CPS1）缺乏症（CPS1D）是一种罕见的常染色体隐性疾病，其特征为危及生命的高氨血症。在本研究中，我们分别介绍了两名新生儿期发病的CPS1D患者的详细临床特征和基因分析，这两名患者分别携带c.1631C>T（p.T544M）/c.1981G>T（p.G661C）以及c.2896G>T（p.E966X）/c622-3C>G这两个基因的复合杂合变异。其中，三个变异是新的、未报道过的，包括一个错义变异（c.1981G>T，p.G661C）、一个无义变异（c.2896G>T，p.E966X）以及一个剪接变异c.622-3C>G。我们查阅了所有关于该基因突变的可用文献，总共报道了264种不同的变异，其中大多数（157种，占59.5%）为错义变异，其次是35种（占13.2%）小缺失变异。本研究扩展了该基因的突变谱。此外，我们的病例及文献回顾进一步支持了以下观点：大多数（≥90%）的突变是“私人”的，只有约10%在无关家族中复发。
