Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency

Lu, Deyun; Han, Feng; Qiu, Wenjuan; Zhang, Huiwen; Ye, Jun; Liang, Lili; Wang, Yu; Ji, Wenjun; Zhan, Xia; Gu, Xuefan; Han, Lianshu

doi:10.1186/s13023-020-01606-2

Orphanet Journal of Rare Diseases

Table 3 Molecular detective results, family history, and clinical outcomes identified in 69 patients with OTCD

From: Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency

NO.^a	Type	Exon/Intron	Nucleotide change	Amino acid change	Nature of mutation	Family history	Therapy received^b	Outcome/neurologic damage
1	EO	E4	c.386G>A	p.R129H	NA	No	LPD, drug	Alive/no
2	EO	E5	c.482A>G	p.N161S	Inherited	Yes	ND	Deceased
3	EO	E6	c.579G>A	p.W193X	Inherited	Yes	ND	Deceased
4	EO	E6	c.583G>A	p.G195R	Inherited	Yes	ND	Deceased
5	EO	E8	c.725C>T	p.T242I	Inherited	No	LPD, drug	Deceased
6	EO	E8	c.829C>T	p.R277W	De novo	No	MV, TPN, PD	Deceased
7	EO	E8	c.860C>T	p.T287>I	Inherited	Yes	Drug	Alive/no
8	EO	E9	c.904C>T	p.H302Y	Inherited	No	Drug	Deceased
9	EO	E2-6	E2-6 duplication		Inherited	No	ND	Deceased
10	EO	E7-10	E7-10 deletion		Inherited	Yes	ND	Deceased
11	EO	NA	NA	NA	NA	No	ND	Deceased
12	EO	NA	NA	NA	NA	No	ND	Deceased
13	EO	NA	NA	NA	NA	No	Drug	Deceased
14	LO	E2	c.119G>A	p.R40H	NA	Yes	Drug	Deceased
15	LO	E2	c.122A>C	p.D41A	Inherited	Yes	Drug	Alive/yes
16	LO	E4	c.386G>T	p.R129C	Inherited	Yes	LT	Alive/yes
17	LO	E6	c.562G>C	p.G188R	Inherited	Yes	Withdraw	Withdraw
18	LO	E6	c.604C>T	p.H202Y	Inherited	No	LT	Alive/yes
19	LO	E6	c.622G>A	p.A208T	Inherited	No	Drug	Alive/yes
20	LO	E8	c.794G>A	p.W265X	De novo	No	Drug	Deceased
21	LO	E8	c.829C>T	p.R277W	Inherited	No	LPD, drug	Alive/no
22	LO	E8	c.829C>T	p.R277W	Inherited	No	LT	Alive/yes
23	LO	E8	c.829C>T	P.R277W	Inherited	No	LPD, drug	Alive/no
24	LO	E8	c.829C>T	P.R277W	Inherited	Yes	Drug	Alive/yes
25	LO	E8	c.829C>T	p.R277W	Inherited	No	LPD, drug	Deceased
26	LO	E8	c.829C>T	p.R277W	Inherited	No	LPD, drug	Alive/Yes
27	LO	E9	c.913C>T	p.P305S	De novo	No	LPD, drug	Alive/yes
28	LO	E9	c.919A>G	p.K307E	Inherited	No	LPD	Alive/yes
29	LO	E9	c.931G>A	p.V311M	Inherited	No	LPD, drug	Alive/no
30	LO	E10	c.1019C>T	p.S340F	Inherited	No	LPD, drug	Alive/yes
31	LO	E9	c.929_931delAAG	p.309delE	De novo	No	Drug	Alive/no
32	LO	E1-4	E1-4 duplication		Inherited	Yes	ND	Deceased
33	LO	–	7.8 Mb deletion of Xp11.4p21.2		De novo	No	CVVH, Drug	Alive/yes
34	LO	E2	c.78-2 A>G	IVS1-2A>G	Inherited	Yes	Drug	Deceased
35	EO	I1	c.77+1G>C	IVS1+1G>C	Inherited	No	ND	Deceased
36	EO	E9-10	E9-10 deletion		De novo	No	LT	Alive/yes
37	LO	E1	c.3G>A	p.M1I	De novo	No	LPD, drug	Alive/yes
38	LO	E1	c.67C>T	p.R23X	Inherited	No	LPD, drug	Alive/no
39	LO	E2	c.140delA	p.N47Tfs*17	De novo	No	Drug	Deceased
40	LO	E2	c.174G>A	p.W58X	De novo	No	Withdraw	Withdraw
41	LO	E3	c.275G>A	p.R92Q	De novo	No	LPD, drug	Deceased
42	LO	E4	c.317G>T	p.G106V	Inherited	No	LT	Alive/no
43	AS	E5	c.421C>G	p.R141G	Inherited	Yes	Drug	Alive/no
44	LO	E5	c.422G>A	p.R141Q	Inherited	No	Drug	Deceased
45	LO	E5	c.540G>C	p.Q180H	De novo	No	LT	Alive/yes
46	LO	E6	c.552insGAAC	p.S185Efs*41	De novo	No	Drug	Deceased
47	LO	E6	c.583G>A	p.G195R	Inherited	No	LT	Alive/yes
48	LO	E6	c.583G>A	p.G195R	Inherited	No	ND	Deceased
49	LO	E6	c.626C>T	p.A209V	Inherited	No	LPD, drug	Alive/yes
50	LO	E6	c.626C>T	p.A209V	De novo	No	Drug	Alive/yes
51	LO	E7	c.704A>C	p.Q235P	Inherited	No	LT	Alive/yes
52	LO	E7	c.703C>T	p.Q235X	Inherited	Yes	CVVH, LPD, drug	Alive/yes
53	LO	E8	c.779T>C	p.L260S	Inherited	No	ND	Deceased
54	LO	E9	c.914C>G	p.P305R	De novo	No	LT	Alive/yes
55	LO	E9	c.944T>G	p.V315G	De novo	No	LT	Alive/no
56	LO	I3	c.298 + 2T>G	IVS3+2T>G	Inherited	No	LT	Alive/yes
57	LO	I3	c.298+5G>C	IVS3+5G>C	De novo	No	LPD, drug	Alive/yes
58	LO	I5	c.540+265G>A	IVS5+265G>A	De novo	No	LPD, drug	Alive/yes
59	LO	I6	c.664-1G>A	IVS6-1G>A	De novo	No	Drug	Alive/no
60	LO	I7	c.718-1G>A	IVS7-1G>A	De novo	No	Drug	Alive/yes
61	LO	I8	c.868-1G>C	IVS8-1G>C	De novo	No	Drug	Alive/yes
62	LO	E2	c.124_126delCTT	p.42delL	De novo	No	LT	Alive/no
63	LO	E2-3	c.207-226del20		De novo	No	LPD, drug	Alive/no
64	LO	E1-4	E1-4 deletion		Inherited	Yes	LPD, drug	Alive/yes
65	LO	E2-4	E2-4 deletion		De novo	No	Withdraw	Withdraw
66	LO	E5-8	E5-8 deletion		De novo	No	LPD, drug	Alive/no
67	LO	ND	ND	ND	ND	Yes	LPD, drug	Deceased
68	LO	ND	ND	ND	ND	No	Withdraw	Withdraw
69	LO	ND	ND	ND	ND	No	LT	Alive/yes

EO, early onset; LO, late onset; E, exon, I, intron; LPD, low-protien diet; MV, mechanical ventilation; TPN, total parenteral nutrition; PD, peritoneal dialysis; LT, Liver transplantation; CVVH, continuous veno venous hemodiafltration; NA, not analysed; ND, not detected
^aPatients 1–34 are males, and patients 35–69 are females
^bDrug: Referred to L-arginine, L-Citrulline, sodium benzoate, and sodium phenylbutyrate

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ISSN: 1750-1172

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