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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
  1. In bold: *mutations not published in the public database HGMD [31].
  2. F: female; M: male.
  3. A: asymptomatic; FH: family history.
  4. Cases 21 and 25, 32 and 51, 37 and 75, 76 and 77 are relatives.
  5. [24]-[27]: references of primary publications where these patients and their mutations were published.