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Table 6 Prenatal diagnosis in families with UCDs

From: Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing

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)
  1. NK: Not known, PGD: Pre-implantation genetic diagnosis
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172