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. 2019 Aug 19;14:203. doi: 10.1186/s13023-019-1177-3

Table 1.

CEMECO’s UCDs cohort description

Fam Pat Presentation Gene Alteration Protein Onset Remarks
I 1 Symptomatic female OTC delExon1–10 7 m ND †
2 Symptomatic female OTC delExon 1–10 3y ND, DA
3 Hemizygous neonatal onset OTC delExon 1–10 5d ND †
4 Asymptomatic female OTC delExon1–10
5 Asymptomatic female OTC delExon1–10
II 6 Hemizygous late onset OTC c.216 + 1G > A Affects splicing 2y
7 Asymptomatic female OTC c.216 + 1G > A Affects splicing
III 8 Hemizygous late onset OTC c.386G > A Affects splicing 6 m ND
9 Asymptomatic female OTC c.386G > A Affects splicing
IV 10 Symptomatic female OTC c.452 T > G p.Leu151Arg 4y ND
V 11 Symptomatic female OTC c.533C > T p.Thr178Met 10 m ND
12 Hemizygous neonatal onset OTC c.533C > T p.Thr178Met 48-72hs ND †
13 Asymptomatic female OTC c.533C > T p.Thr178Met
VI 14 Symptomatic female OTC c.540 + 1G > A Intronic 9 m ND
VII 15 Hemizygous neonatal onset OTC c.540 + 1G > A Intronic 48-72hs
16 Asymptomatic female OTC c.540 + 1G > A Intronic
VIII 17 Hemizygous late onset OTC c.622G > A p.Ala208Thr 8y
18 Asymptomatic female OTC c.622G > A p.Ala208Thr
IX 19 Hemizygous late onset OTC c.829C > T p.Arg277Trp 10y †
20 Asymptomatic female OTC c.829C > T p.Arg277Trp
X 21 Symptomatic female OTC dup1–9/del10 – 9 m †
XI 22 Hemizygous neonatal onset OTC c.697delG p.Ala233Glnfs*14 48-72hs †
23 Asymptomatic female OTC c.697delG p.Ala233Glnfs*14
24 Asymptomatic female OTC c.697delG p.Ala233Glnfs*14
XII 25 Hemizygous neonatal onset OTC NA NA 48-72hs †
XIII 26 Symptomatic female OTC NA NA 48-72hs †
XIV 27 Late ASS1 c.79 T > C / c.847G > A p.Gln27* / p.Glu283Lys 45d
XV 28 Late ASS1 c.79 T > C / c.970G > A p.Gln27* / p.Gly324Ser 16d †
XVI 29 Neonatal ASS1 c.1168G > A /c.1168G > A p.Gly390Arg /p.Gly390Arg 48-72hs †
XVII 30 Neonatal ASS1 c.1168G > A /c.1168G > A p.Gly390Arg /p.Gly390Arg 48-72hs †
XVIII 31 Neonatal ASS1 c.1168G > A /c.1168G > A p.Gly390Arg /p.Gly390Arg 48-72hs †
XIX 32 Neonatal ASS1 c.1168G > A /c.1168G > A p.Gly390Arg /p.Gly390Arg 48-72hs †
XX 33 Neonatal ASS1 c.1168G > A /c.1168G > A p.Gly390Arg /p.Gly390Arg 48-72hs †
XXI 34 Neonatal ASS1 c.1168G > A /c.1168G > A p.Gly390Arg /p.Gly390Arg 48-72hs †
XXII 35 Neonatal ASS1 c.1168G > A /c.1168G > A p.Gly390Arg /p.Gly390Arg 48-72hs †
XXIII 36 Neonatal ASS1 c.1168G > A /c.1168G > A p.Gly390Arg /p.Gly390Arg 48-72hs †
XXIV 37 Neonatal ASS1 c.1168G > A /c.1168G > A p.Gly390Arg /p.Gly390Arg 48-72hs †
XXV 38 Neonatal ASS1 c.1168G > A /c.1168G > A p.Gly390Arg /p.Gly390Arg 48-72hs †
XXVI 39 Neonatal ASS1 c.1168G > A /c.1168G > A p.Gly390Arg /p.Gly390Arg 48-72hs †
XXVII 40 Neonatal ASS1 c.1168G > A /c.1168G > A p.Gly390Arg /p.Gly390Arg 48-72hs †
XXVIII 41 Neonatal ASS1 c.1168G > A /c.1168G > A p.Gly390Arg /p.Gly390Arg 48-72hs †
XXIX 42 Neonatal ASS1 c.1168G > A /c.1168G > A p.Gly390Arg /p.Gly390Arg 48-72hs †
XXX 43 Neonatal ASS1 c.1168G > A /c.1168G > A p.Gly390Arg /p.Gly390Arg 48-72hs †
XXXI 44 Neonatal ASS1 c.1168G > A /c.1168G > A p.Gly390Arg /p.Gly390Arg 48-72hs †
XXXII 45 Neonatal ASS1 c.1168G > A /c.1168G > A p.Gly390Arg /p.Gly390Arg 48-72hs †
XXXIII 46 Neonatal ASL c.857A > G/c.328G > T p.Gln286Arg/p.Gly110* 48-72hs †
XXXIV 47 Late ASL c.857A > G/c.436C > T p.Gln286Arg/p.Arg146Trp 20 m
XXXV 48 Neonatal ASL c.857A > G/c.857A > G p.Gln286Arg/p.Gln286Arg 48-72hs ND
XXXVI 49 Neonatal ASL c.857A > G/c.857A > G p.Gln286Arg/p.Gln286Arg 48-72hs †

ND Neurologic damage, †: deceased; DA Diagnosis in asymptomatic period, NA Not assessed