Clinical and genetic analysis of a case of late onset carbamoyl phosphate synthase I deficiency caused by CPS1 mutation and literature review

Wang, Shangyu; Chen, Jinglin; Zhu, Xiaoqi; Huang, Tingting; Xu, Haifeng; Ying, Guohuan; Qian, Hao; Lin, Wenxin; Tung, Yiehen; Khan, Kaleem Ullah; Guo, Hu; Zheng, Guo; Lu, Haiying; Zhang, Gang

doi:10.1186/s12920-023-01569-w

Table 2 Summary of reported mutation loci in CPS1D cases in the last 5 years

From: Clinical and genetic analysis of a case of late onset carbamoyl phosphate synthase I deficiency caused by CPS1 mutation and literature review

Case	Variable loci	Structural Domain	Clinical Type	Ending	References
Case1	p.Gly58Val	N-Terminal	Early-onset	Survival (short-term)	Chen et al., 2018 [6]
Case1	p.Gly266Arg	N-Terminal	Early-onset	Survival (short-term)	Chen et al., 2018 [6]
Case2	p.Pro983Ser	Carbamate phosphorylation	Early-onset	Death	Bai et al., 2022 [7]
Case2	p.Arg850Cys	20 kDa unknown functional structural	Early-onset	Death	Bai et al., 2022 [7]
Case3	p.Pro846Leu	20 kDa unknown functional structural	Early-onset	Death	Zhang et al., 2017 [1]
Case3	p.Met1148Lys	Carbamate phosphorylation	Early-onset	Death	Zhang et al., 2017 [1]
Case4	p.Cys600Tyr	Bicarbonate phosphorylation	Early-onset	Death	Zhang et al., 2017 [1]
Case4	p.Leu 1363_Ile1366del	NAG binding	Early-onset	Death	Zhang et al., 2017 [1]
Case5	p.Gln194*	N-Terminal	Early-onset	Survival (short-term)	Choi R et al., 2017 [8]
Case5	p.Gly516Alafs*5	Bicarbonate phosphorylation	Early-onset	Survival (short-term)	Choi R et al., 2017 [8]
Case6	p.Asp920His	20 kDa unknown functional structural	Early-onset	Unknown	M.Sc et al., 2018 [9]
Case7	p.Pro265Thr	Ancestral inactive glutaminase	Late-onset	Survival (short-term)	Lin et al., 2022 [10]
Case7	p.Leu1398Argfs*25	NAG binding	Late-onset	Survival (short-term)	Lin et al., 2022 [10]
Case8	p.Arg787*	Bicarbonate phosphorylation	Early-onset	Survival (short-term)	Sugiyama Y et al., 2020 [11]
Case8	p.Val1187Phe	Carbamate phosphorylation	Early-onset	Survival (short-term)	Sugiyama Y et al., 2020 [11]
Case9	p.Thr544Met	Bicarbonate phosphorylation	Early-onset	Death	Yan et al., 2020 [12]
Case9	p.Gly661Cys	Bicarbonate phosphorylation	Early-onset	Death	Yan et al., 2020 [12]
Case10	p.Glu966X	20 kDa unknown functional structural	Early-onset	Death	Yan et al., 2020 [12]
Case11	p.Ala160Thr	N-Terminal	Late-onset	Survival (long-term)	Fan et al., 2020 [13]
Case11	p.Pro382Leu	Ancestral inactive glutaminase	Late-onset	Survival (long-term)	Fan et al., 2020 [13]
Case12	p.Thr955Thrfs*12	20 kDa unknown functional structural	Early-onset	Survival (short-term)	Fan et al., 2020 [13]
Case12	p.Arg1317Trp	Carbamate phosphorylation	Early-onset	Survival (short-term)	Fan et al., 2020 [13]
Case13	p.Val653Gly	Bicarbonate phosphorylation	Late-onset	Survival (long-term)	Fan et al., 2020 [13]
Case13	p.Pro382Leu	Ancestral inactive glutaminase	Late-onset	Survival (long-term)	Fan et al., 2020 [13]
Case14	p.Trp1315X	Carbamate phosphorylation	Early-onset	Survival (short-term)	Fan et al., 2020 [13]
Case14	p.Arg587His	Bicarbonate phosphorylation	Early-onset	Survival (short-term)	Fan et al., 2020 [13]
Case15	p.Glu379Val	Ancestral inactive glutaminase	Late-onset	Survival (long-term)	Fan et al., 2020 [13]
Case15	p.Pro1265Ser	Carbamate phosphorylation	Late-onset	Survival (long-term)	Fan et al., 2020 [13]
Case16	p.Arg850His	20 kDa unknown functional structural	Late-onset	Survival (long-term)	Ishikawa et al., 2022 [14]
Case17	p.Arg787X	Bicarbonate phosphorylation	Early-onset	Survival (long-term)	IMATAKA et al., 2021 [15]
Case17	c.236 + 6T > C	-	Early-onset	Survival (long-term)	IMATAKA et al., 2021 [15]
Case18	p.Arg721Gln	Bicarbonate phosphorylation	Early-onset	Survival (long-term)	Zhou et al., 2020 [16]
Case18	p.Giy980Ser	Carbamate phosphorylation	Early-onset	Survival (long-term)	Zhou et al., 2020 [16]
Case19	p.Leu1245His	Carbamate phosphorylation	Early-onset	Survival (long-term)	Zhou et al., 2020 [16]
Case19	p.Arg1262∗	Carbamate phosphorylation	Early-onset	Survival (long-term)	Zhou et al., 2020 [16]
Case20	p.Arg803Gly	Bicarbonate phosphorylation	Early-onset	Survival (short-term)	Yang et al., 2017 [5]
Case20	p.Gly108Glu	N-Terminal	Early-onset	Survival (short-term)	Yang et al., 2017 [5]

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