Citrullinemia type I is associated with a novel splicing variant, c.773 + 4A > C, in ASS1: a case report and literature review

Table 3 Clinical presentations, biochemical, and genetic investigations of ten Chinese patients with citrullinemia type 1

Patient no.	Gender	Age of onset	Clinical presentation	Citrulline levels (μmol/L)^a	Blood ammonia (μmol/L)^b	Mutaion 1			Mutaion 2			Outcome	Ref.
Patient no.	Gender	Age of onset	Clinical presentation	Citrulline levels (μmol/L)^a	Blood ammonia (μmol/L)^b	Location	c.DNA^c	Protein	Location	c.DNA	Protien	Outcome	Ref.
1	Male	3 y	Mild form	90.05	70	Intron 11	c.773 + 4A > C		Intron 11	c.773 + 4A > C		Well	This study
2	n.a.	2 d	Neonatal form	487.69	286	Exon 6	c.380G > A	p.Arg127Gln	Exon 6	c.380G > A	p.Arg127Gln	Died	[12]
3	Male	n.p.	Mild form	961.42	91	Intron 4	c.174 + 1G > A		Exon 7	c.422 T > C	p.Val141Gly	Well	[13]
4	Female	4 d	Neonatal form	1085.41	231	Intron 11	c.773 + 1G > A		Exon 12	c.793C > T	p.Arg265Cys	Moderate	[13]
5	Female	3 m	Late-onset form	n.a.	311	Exon 7	c.431C > G	p.Pro144Arg	Exon 14	c.1087C > T	p.Arg363Trp	Moderate	[17]
6	Male	n.p.	Mild form	111.21	17	Exon 3	c.53C > T	p.Ser18Leu	Exon 15	c.1168G > A	p.Gly390Arg	Well	[16]
7	Female	1 y, 3 m	Late-onset form	928.77	160	Exon 13	c.847G > A	p.Glu283Lys	Exon 14	c.1009 T > C	p.Cys337Arg	Moderate	[10]
8	Female	1 y, 5 m	Late-onset form	653	126	Exon 5	c.236C > T	p.Ser79Phe	Exon 7	c.431C > G	p.Pro144Arg	n.a.	[14]
9	Female	2 d	Neonatal form	1577.7	670	Exon 13	c.951delT	p.F317LfsX375	Exon 14	c.1087C > T	p.Arg363Trp	Died	[11]
10	Male	2 d	Neonatal form	2513.5	n.a.	Exon 13	c.970G > A	p.Gly324Ser	Exon 13	c.970G > A	p.Gly324Ser	n.a.	[15]

^aReference range: 5.5–30 μmol/L; ^b Reference range: 10–47 μmol/L; ^c novel mutations are in bold character
n.p. not present, n.a. not available, d day, y year

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