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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 receivedb 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
  1. 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
  2. aPatients 1–34 are males, and patients 35–69 are females
  3. bDrug: Referred to L-arginine, L-Citrulline, sodium benzoate, and sodium phenylbutyrate
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