Table 1 Molecular findings and multiorgan characteristics
From: Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment
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 |