Table 2.
Genetic variants identified in the study cohort.
| Gene | Variant | Frequency (gnomAD, popmax) | Identification method | CADD score | Patients |
|---|---|---|---|---|---|
| NR4A3 | NM_006981: c.C872T; p.Thr291Met | 0.00006 | Family-based analysis | 24.8 | 4, 5, 6 |
| NR4A3 | NM_006981: c.C1578G; p.Ser526Arg | 0.00014 | Candidate gene approach (Re-analysis of genes identified in approaches 1–3) | 16.01 | 2 |
| PDZRN3 | NM_001303139: c.C1362G; p.Ser454Arg | Not previously observed | Family-based analysis | 25.6 | 4, 5, 6 |
| TNFAIP2 | NM_006291: c.C1240G; p.Gln414Glu | Not previously observed | Family-based analysis | 12.09 | 4, 5, 6 |
| AGXT2 | NM_001306173: c.C703T; p.Pro235Ser | Not previously observed | De novo analysis | 13.9 | 9 |
| NOS3 | NM_001160109: c.G1684A; p.Glu562Lys | 0.00003 | Candidate gene approach (angiogenesis gene) | 33 | 1 |
| ITGAV | NM_001145000: c.A1313T; p.Asn438Ile | Not previously observed | Candidate gene approach (angiogenesis gene) | 26.8 | 1 |
| FGR3 | NM_000142: c.A1136G; p.Tyr379Cys | Not previously observed | Candidate gene approach (angiogenesis gene) | 25.3 | 2 |
| GBR7 | NM_001030002: c.G869A; p.Arg290His | 0.00089 | Autozygous region | 32 | 1 |