Table 1.
Molecular findings and multiorgan characteristics
| Patient/Sex | 1 Male | 2 Female | 3 Female | 4 Male | 5 Male | 6 Female | 7 Female | 8 Male | 9 Female | 10 Female | 11 Female | 12 Female | 13 Male |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Molecular findings | p.E93A/p.R141H | p.R123Q/p.C241S | p.F157S/p.C241S | p.L32R/p.R141H | p.R162W/c.523 + 3A > G | p.F157S/p.R162W | p.P113L/p.D209G | p.C241S/p.R141H | p.T237M/c.640-9 T > G | p.P113L/c.353C > T + c.550C > A | p.R123X/p.I153T | p.P113L/p.P113L | p.E139K/ p.E139K |
| Age at evaluation/age at onset | 15 years/21 months | 6 years/9 months | 8 years/8 months | 7 years/Newborn | 10 years/3 months | 10 years/8 months | 11 years/Newborn | 5 years/2.5 years | 11 years/8 months | 8 years/7 months | 16 years/Newborn | 6 years/3 months | 11 years/ Newborn |
| Dysmorphic features | Large normal setting ears | Almond slanted eyes | No | Anteverted ears | Inverted nipples | Lipodystrophy | Almond slanted eyes, lipodystrophy | No | Almond slanted eyes | Almond slanted eyes, low anteverted ears, lipodystrophy | Almond slanted eyes, thick lips, pronounced cheekbones, lipodystrophy | Almond slanted eyes, broad face, large mouth, lipodystrophy, | Almond slanted eyes, broad face, large mouth, lipodystrophy |
| Cardiac involvement | No | No | No | No | No | No | No | No | No | No | No | PDA | Truncus arteriosus |
| Digestive involvement | Diarrhea, hypoglycemia | No | No | Vomits | No | ↑ALT | ↑ALT, AST (only perinatal period) | No | ↑ALT, AST | Growth failure, hypoglycemia | Vomits, growth failure, diarrhea | ↑ALT, AST | Failure to drive |
| Coagulation | ↓ AT-III, PC | ↓ AT-III, PC, PS | ↓ AT-III, PC | ↓ AT-III, PC | Normal | ↑ PT; ↓AT-III, PS | ↓ PC, PS | No | ↓FXI | ↑PT, aPTT, | ↓ aPTT | ↓ AT-III | ↑PT |
| ↓AT-III, PC, PS | |||||||||||||
| Endocrine involvement | No | No | No | No | No | No | Hypergonadotropic hypogonadism | No | No | Mild ↑TSH, hypoglycemia | Delayed puberty | ND | No |
| Kidney involvement | Nephro calcinosis | No | No | No | No | No | No | No | No | ↑Echogenicity, nephrolithiasis | Proteinuria | No | No |
| Eye abnormalities | Strabismus, pigmentary retinopathy | Strabismus upgaze deviation | Strabismus | Strabismus, hypermetropia, astigmatism | Strabismus, saccadic movements hypermetropia | Strabismus, hypermetropia | Strabismus, hypermetropia, astigmatism, abnormal ERG | No | Strabismus | Strabismus, upgaze deviation, saccadic movements | Strabismus, upgaze deviation, retinopathy, hypermetropia | Strabismus, hypermetropia | Strabismus |
PDA Persistent ductus arteriosus, ALT Alanine transaminase, AST Aspartate transaminase, ↑ Increased values, ↓ Decreased values, AT-III Antithrombin III, PC Protein C, PS Protein S, FXI Coagulation factor XI, aPTT Activated partial thromboplastin time, FIX Coagulation factor IX, PT Prothrombin time, ND No data available, TSH Thyroid stimulating hormone