Table 6 Prenatal diagnosis in families with UCDs
S. No (as per Additional file 1) | Diagnosis in proband | Age at presentation in probands | Consanguinity among parents | Mutations in proband | Protein change | Number of PND | Results of PND |
|---|---|---|---|---|---|---|---|
5 | ASS1-D | 6 days | No | c.1168G > A | p.Gly390Arg | Once | Not affected (carrier) |
7 | ASS1-D | 5 days | Yes | c.470G > A | p.Arg157His | Twice | One affected, one unaffected (carrier) |
10 | ASS1-D | 5 days | No | c.1168G > A | p.Gly390Arg | Once | Not affected |
16 | ASS1-D | 7 days | No | c.570T > A c.350G > A | p.Tyr190Ter & p.Gly117Asp | Once | Affected |
17 | ASS1-D | 4 days | No | c.1139delA | p.Glu380Arg fs*20 | Once | Not affected (carrier) |
18 | ASS1-D | 4 days | No | c.470G > A | p.Arg157His | Once, one PGD | Affected, PGD pregnancy healthy baby |
19 | ASS1-D | 6 days | Yes | c.970G > A | p.Gly324Ser | Once | Not affected (carrier) |
22 | ASS1-D | 2 days | Yes | c.470G > A | p.Arg157His | Once | Not affected (carrier) |
27 | ASS1-D | 4 days | No | c.1168G > A | p.Gly390Arg | Once | Not affected |
30 | ASS1-D | 5 days | No | c.470G > A | p.Arg157His | Once | Not affected (carrier) |
33 | ASS1-D | 3 days | No | c.1168G > A | p.Gly390Arg | Once | Not affected |
35 | ASS1-D | Neonatal | No | c.1168G > A | p.Gly390Arg | Once | Not affected |
61 | ASS1-D | Neonatal | No | c.1168G > A | p.Gly390Arg | Once | Not affected (carrier) |
62 | ASL-D | 4 days | No | c.509G > A c.1297A > C | p.Ser170Asn p.Ser433Arg | Twice | Affected once, not affected second time |
65 | ASL-D | 5 days | No | c.637C > T c.1300G > T | p.Arg213Ter p.Val434Leu | Once | Not affected (carrier) |
70 | ASL-D | 9 days | Yes | c.913G > A c.749 T > A | p.Gly305Arg p.Met250Lys | Once | Not affected (carrier) |
87 | OTC-D | 6 days | No | c.674C > T | p.Pro225Leu | Twice | Not affected (once carrier, once no mutation) |
91 | OTC-D | 3 days | Yes | whole gene deletion (mother tested) | Once | Carrier female | |
92 | OTC-D | 3 days | No | c.274C > T | p.Arg92Ter | Once | Not affected |
94 | OTC-D | 5 days | Yes | c.421C > T | p.Arg141Ter | Twice | First affected male, second carrier female |
97 | OTC-D | 2 days | No | whole gene deletion (mother tested) | Once | Not affected | |
101 | OTC-D | 5 years | No | whole gene deletion (mother tested) | Once | Not affected | |
119 | CPS1 -D | NK | NK | c.2623A > G | p.Lys875Glu | Once | Not affected |
120 | NAGS-D | NK | NK | c.991C > T | p.Gln331Ter | Once | Not affected |
121 | NAGS-D | Neonatal | Yes | c.787G > T | p.Glu263Ter | Once | Not affected (Carrier) |