Table 4 Mutations identified in 52 patients (48 families) with OTC deficiency
From: Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases
Patient n°/gender/[reference] | Nucleotide | Protein | Onset | Neurologic damage | Alive |
|---|---|---|---|---|---|
4 M | c.1028C > G* | p.Thr343Arg* | Late | No | Yes |
5 F | c.663 + 2 T > C (IV6 + 2 T > C) | Late | Yes | Yes | |
7 F | c.533C > T | p.Thr178Met | Late | No | Yes |
8 M | c.421C > T | p.Arg141Term | Late | No | Yes |
10 F | c.533C > T | p.Thr178Met | Late | Yes | Yes |
11 F | c.914C > G | p.Pro305Arg | Late | No | Yes |
12 M | c.604C > T | p.His202Tyr | Late | No | Yes |
13 F [27] | c.287C > T | p.Ser96Phe | Late | No | Yes |
14 F | del814-816GAG* | p.Glu273del* | Late | No | Yes |
16 F | c.386 + 1G > A (IVS4 + 1G > A) | Late | Yes | Yes | |
20 M | c.365A > G | p.Gln122Gly | Late | Yes | Yes |
21 M | c.119G > A | p.Arg40His | A, FH | No | Yes |
22 M | c.264A > T | p.Lys88Asn | Late | No | Yes |
25 M | c.119G > A | p.Arg40His | Late | No | Yes |
27 F | c.67C > T | p.Arg23Term | Late | Yes | Yes |
32 F [24] | c.386G > A | p.Arg129His | Late | No | Yes |
33 F [25] | c.205C > T | p.Gln69Term | Late | Yes | Yes |
36 F [25] | delOTC gene >1.6 Mb | Late | Yes | Yes | |
37 F | c.583G > A | p.Gly195Arg | A, FH | No | Yes |
38 F | c.386G > A | p.Arg129His | Late | No | Yes |
40 M [27] | c.386 + 5G > A (IVS4 + 5G > A) | Neonatal | No | Yes | |
45 F | c.278C > T* | p.Thr93Ileu* | Late | No | Yes |
48 M [24] | c.386G > A | p.Arg129His | Neonatal | No | Yes |
49 M | c.86C > T | p.Ala209Val | Late | Yes | Yes |
50 F | c.476 T > C | p.Ile159Thr | Late | Yes | Yes |
51 M [24] | c.386G > A | p.Arg129His | Late | No | Yes |
52 F [25] | c.514A > T | p.Ile172Phe | Late | No | Yes |
53 M | c.829C > T | p.Arg277Trp | Late | No | Yes |
54 M [26] | c.571C > T | p.Leu191Phe | Late | Yes | Yes |
55 M | c.622G > A | p.Ala208Thr | Late | Yes | Yes |
56 M | c.263A > C* | p.Lys88Thr* | Late | No | Yes |
59 M | c.622G > A | p.Ala208Thr | A, FH | No | Yes |
60 F | c.298 + 1G > C (IVS3 + 1G > C)* | Late | No | Yes | |
68 F | c.1018C > T | p.Ser340Pro | Late | Yes | Yes |
69 F [26] | c.1022C > T | p.Leu341Pro | Late | Yes | Yes |
72 F | c.482A > G | p.Asn161Asp | Late | No | Yes |
73 M | c.144delT* | p.Phe48Leufs*16* | Neonatal | - | No |
74 F | c.254 T > G* | p.Ileu85Ser* | Late | No | Yes |
75 F | c.583G > A | p.Gly195Arg | A, FH | No | Yes |
76 M | c.119G > A | p.Arg40His | A, FH | No | Yes |
77 M | c.119G > A | p.Arg40His | Late | Yes | Yes |
79 F | c.154G > A | p.Glu52Lys | Late | Yes | Yes |
80 F | c.583G > A | p.Gly195Arg | Late | Yes | Yes |
82 M | c.622G > A | p.Ala208Thr | Late | Yes | Yes |
83 M | c.932 T > A | p.Val311Glu | Neonatal | No | Yes |
88 F | c.605A > T | p.His202Leu | Late | No | Yes |
91 F | c.386 + 2 T > C (IVS4 + 2 T > C) | Late | No | Yes | |
94 F | c.630delA* | p.Lys210Asnfs*20* | Late | Yes | Yes |
95 F | delOTC gene >1.6 Mb | Late | Yes | Yes | |
97 M | c.958C > T | p.Arg320Term | Neonatal | - | No |
100 F | c.386G > A | p.Arg129His | Late | No | Yes |
103 F [27] | c.211G > T | p.Gly71Term | Late | Yes | Yes |