Table 1. Summary of the Swiss cohort of OTC deficient patients.
| No.a | Sexb | Age at Diagnosisc | Current Aged | Symptomse | Mutation (NM_000531.5)f | Referencesg |
|---|---|---|---|---|---|---|
| 1 | f | 18 m | 25 y | yes | no mutation found | |
| 2 | f | 2 y | 24 y | yes | c.421C>T; p.Arg141* | [24] |
| 3 | f | 19 m | 20 y | yes | no mutation found | |
| 4.1 | m | 2 m | 17 y | yes | c.540G>C; p.Gln180His | [25] |
| 4.2 | f | 33 y | 46 y | no | c.540G>C; p.Gln180His | |
| 4.3 | f | 15 y | 28 y | no | c.540G>C; p.Gln180His | |
| 5 | f | 13 y | 30 y | yes | c.533C>T; p.Thr178Met | [26] |
| 6.1 | m | 7 d | 16 y | yes | c.386G>A; p.Arg129His | [27] |
| 6.2 | f | 34 y | 50 y | no | c.386G>A; p.Arg129His | |
| 7.1 | f | 24 y | 38 y | yes | c.506C>A; p.Pro169His | this study |
| 7.2 | f | prenatal | 7 y | yes | c.506C>A; p.Pro169His | |
| 8.1 | m | 7 d | † | death | c.717G>A; p.Glu239 = | [28] |
| 8.2 | f | 34 y | 48 y | yes | c.717G>A; p.Glu239 = | |
| 9 | f | 10 m | 12 y | yes | no mutation found | |
| 10 | f | 7 y | 18 y | yes | c.583G>A; p.Gly195Arg | [29] |
| 11 | f | 20 m | 10 y | yes | c.674C>T; p.Pro225Leu | [30] |
| 12 | f | 8 y | 17 y | yes | c.422G>A; p.Arg141Gln | [31] |
| 13.1 | f | 16 y | † | death | c.538C>T; p.Gln180* | this study |
| 13.2 | f | 38 y | 38 y | yes | c.538C>T; p.Gln180* | |
| 13.3 | f | n.a. | n.a. | n.a. | c.538C>T; p.Gln180* | |
| 13.4 | f | n.a. | n.a. | n.a. | c.538C>T; p.Gln180* | |
| 13.5 | f | n.a. | n.a. | n.a. | c.538C>T; p.Gln180* | |
| 13.6 | m | prenatal | † | death | c.538C>T; p.Gln180* | |
| 14.1 | m | 9 d | 8 y | yes | c.386G>A; p.Arg129His | [27] |
| 14.2 | f | 3 y | 11 y | yes | c.386G>A; p.Arg129His | |
| 14.3 | f | 41 y | 50 y | no | c.386G>A; p.Arg129His | |
| 15 | f | 6 y | † | death | c.274C>T; p.Arg92* | [32] |
| 16.1 | m | 11 m | 6 y | yes | c.386G>A; p.Arg129His | [27] |
| 16.2 | f | 31 y | 36 y | no | c.386G>A; p.Arg129His | |
| 17.1 | m | 4 d | † | death | c.584G>C; p.Gly195Ala | this study |
| 17.2 | f | 26 y | 31 y | yes | c.584G>C; p.Gly195Ala | |
| 18 | m | 3 d | † | death | c.548A>G; p.Tyr183Cys | [33] |
| 19.1 | m | 2 y | 4 y | yes | c.860C>T; p.Thr287Ile | this study |
| 19.2 | f | 36 y | 38 y | yes | c.860C>T; p.Thr287Ile | |
| 20 | f | 2 y | 4 y | yes | c.274C>T; p.Arg92* | [32] |
| 21.1 | m | 3 d | † | death | c.674C>T; p.Pro225Leu | [30] |
| 21.2 | f | 28 y | 29 y | yes | c.674C>T; p.Pro225Leu |
aNo., case number, in families with more than one case, x.1 stands for the index case which was diagnosed by selective screening in all 21 families
bSex; f, female; m, male
cAge at diagnosis (in most cases diagnosis was first established biochemically and later confirmed by mutational analysis) and
dCurrent age (as of September 2015); d, days, m, months, y, years
†, deceased; n.a., not available
eSymptoms; no = no symptoms; yes = any symptoms from mild to severe; death = deceased due to (complications of) OTCD
fMutations are indicated by changes in the coding DNA (c.) and protein (p.) reference sequences (NM_000531.5 and NP_000522.3, respectively) following the Human Genome Variation Society nomenclature.
gPreviously described mutations are cited in the reference list, four mutations are novel.