Table 1 AGTR1 reported variants and relevant information
Present study | Demirgan (2020) | Gribouval(2012) | Gribouval (2012) | Gribouval (2005) | |
|---|---|---|---|---|---|
Variant | c.415C > T p.Arg139* | c.376C > T p.Arg126* | c.376C > T p.Arg126* | c.251G > A p.Trp84* | c.110_111insT p.Ile38HisfsX37 c.845C > T p.Thr282Met |
dbSNP id | rs1417391173 | rs397514687 | rs397514687 | rs398122935 | rs387906577; rs104893677 |
Variant Effect | Stop gained | Stop gained | Stop gained | Stop gained | Missense |
Zygosity | Homozygous | Homozygous | Homozygous | Homozygous | Compound heterozygotes |
Exon | 3 | 3 | 3 | 3 | 3 |
Gender | F | M + F (siblings) | – + M (siblings) | F | M + F (siblings) |
Country of origin | GCC | Turkish | Pakistan | North Africa | Europe |
Consanguinity | Yes | Yes | Yes | Yes | No |
No. Affected | 1 | 2 | 2 | 1 | 2 |
GA (weeks) | 36 | M (39) F (32) | – (27) M (37) | 37 | M (35) F (TP at 24) |
Oligohydramnios (weeks) | Yes | M (–) F (20) | Yes | 20 | M (30) F (24) |
Age of death | Day 4 | M (Alive) F (Alive) | Both Day 1 | Stillborn | M (36 d) F (TP) |
Anuria | Yes | M (no) F (Yes, resolved) | Yes | Yes | Yes |