Table 1.
Summary of the clinical features in patients with PIGT related MCAHS3 reported to date.
| References | Yang et al. | Pagnamenta et al. | Skauli et al. | Lam et al. | Nakashima et al. | Kvarnung et al. | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Patients | 1 | 1 | 2 | 3 | 1 | 2 | 1 | 2 | 1 | 1 | 2 | 3 | 4 |
| PIGT variants | c.550G>A; p. E184K | c.1582G4A; p.(V528M) | c.709G4C; p.E237Q | c.709G4C; p.E237Q | c.1079G>T; p.G360V | c.1079G>T; p.G360V | c.918dupC; p.V307Rfs*13 | c.918dupC; p.V307Rfs*13 | c.250G>T; p.E84* | c.547A>C; p.T183P | |||
| c.1730dupC; p.L578fs*35 | c.1342C>T; p.R488W | c.1342C>T; p.R488W | c.1342C>T; p.R488W | ||||||||||
| Ethnic | Chinese | Caucasian | Afghanistan | Afghanistan | Somalian | Somalian | Caucasian mother/African American father | Caucasian mother/African American father | N/A | N/A | N\A | N/A | N/A |
| Gender | M | M | M | M | M | M | F | M | F | F | F | F | F |
| GA weeks | 40 | N/A | N/A | N/A | 40 | 40 | <32 | <32 | 40 | 40 | 39 | 37 | 37 |
| Frontal bossing | (+) | (+) | N/A | N/A | (+) | (+) | (+) | (+) | (+) | (+) | (+) | (+) | (+) |
| High forehead | (+) | (+) | N/A | N/A | (+) | (+) | (+) | (+) | (+) | (+) | (+) | (+) | (+) |
| Bitemporal narrowing | (+) | (+) | N/A | N/A | (+) | (+) | (+) | (+) | (+) | (+) | (+) | (+) | (+) |
| Impaired vision | N/A | N/A | N/A | N/A | (+) | (+) | (+) | (+) | N/A | (+) | (+) | (+) | (+) |
| Strabismus | (+) | N/A | N/A | N/A | (+) | (+) | (+) | (+) | N/A | (+) | (+) | (+) | (+) |
| Nystagmus | (−) | N/A | (+) | N/A | (+) | (+) | (+) | (+) | N/A | (+) | (+) | (+) | (+) |
| Hear defect | (−) | N/A | N/A | N/A | (−) | (−) | (+) | (+) | N/A | N/A | N/A | N/A | N/A |
| Depressed nasal bridge | (+) | (+) | N/A | N/A | (+) | (+) | (+) | (+) | (+) | (+) | (+) | (+) | (+) |
| Open mouth | (+) | (+) | N/A | N/A | (+) | (+) | N/A | N/A | N/A | N/A | N/A | N/A | N/A |
| Tented lips | (+) | (+) | N/A | N/A | (+) | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A |
| Low ear-sets | (+) | (+) | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A |
| High-arched palate | (+) | (−) | N/A | N/A | (+) | (+) | N/A | N/A | N/A | N/A | N/A | N/A | N/A |
| Tooth abnormalities | (+) | (+) | N/A | N/A | (+) | (+) | (−) | (−) | N/A | (+) | (+) | (+) | (+) |
| Restrictive cardiomyopathy | (−) | N/A | N/A | N/A | (−) | (−) | N/A | N/A | N/A | (−) | (+) | N/A | (−) |
| Patent ductus arteriosus | (−) | N/A | N/A | N/A | (−) | (−) | (−) | (−) | (+) | (+) | (−) | (−) | (−) |
| Inverted nipples | (−) | N/A | N/A | N/A | (+) | (+) | N/A | N/A | N/A | (−) | (−) | (+) | (+) |
| Osteopenia | (−) | N/A | N/A | N/A | (−) | (−) | (+) | N/A | N/A | N/A | N/A | N/A | N/A |
| Osteoporosis | (−) | N/A | N/A | N/A | (−) | (−) | N/A | N/A | (+) | N/A | N/A | N/A | N/A |
| Delayed bone age | N/A | N/A | N/A | N/A | (−) | N/A | N/A | N/A | N/A | (+) | (+) | (+) | (+) |
| Scoliosis | (−) | N/A | N/A | N/A | N/A | N/A | (−) | (−) | N/A | (+) | (+) | (−) | (−) |
| Hypotonia | (+) | N/A | N/A | N/A | (+) | (+) | (+) | (+) | (+) | (+) | (+) | (+) | (+) |
| Severe Motor and intellectual disability | (+) | (+) | (+) | (+) | (+) | (+) | (+) | (+) | (+) | (+) | (+) | (+) | (+) |
| Feeding difficulty | (+) | N/A | (+) | N/A | (+) | N/A | (+) | N/A | (+) | N/A | N/A | N/A | N/A |
| Febrile sensitive seizures | (+) | (+) | N/A | N/A | (+) | (+) | (+) | N/A | (+) | N/A | N/A | N/A | N/A |
| Seizures | (+) | (+) | (+) | (+) | (+) | (+) | (+) | (+) | (+) | (+) | (+) | (+) | (+) |
| Refractory seizures | N/A | N/A | (+) | (+) | (+) | (+) | (+) | (+) | (+) | N/A | N/A | N/A | N/A |
| EEG abnormalities | (+) | (+) | (+) | (+) | (+) | (+) | (+) | (+) | (+) | (+) | (+) | (+) | (+) |
| Airway softening | (+) | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A |
| Recurrent respiratory infections | (+) | N/A | N/A | N/A | N/A | N/A | N/A | N/A | (+) | N/A | N/A | N/A | N/A |
| Microcephaly | (−) | N/A | (+) | (+) | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A |
| Cerebral atrophy | (+) | N/A | N/A | N/A | (+) | (+) | (+) | (+) | (+) | (−) | (−) | (+) | (+) |
| Ataxia | (+) | (+) | N/A | N/A | (+) | (+) | N/A | N/A | N/A | N/A | N/A | N/A | N/A |
| Cerebellar hypoplasia | (+) | (+) | N/A | N/A | (+) | (+) | (+) | (+) | (+) | (−) | (−) | (+) | (+) |
| Decreased alkaline phosphatase | (−) | (+) | (+) | N/A | (−) | (−) | (−) | (−) | (+) | (+) | (+) | (+) | (+) |
| Nephrolithiasis | (−) | (+) | N/A | N/A | (−) | (−) | N/A | N/A | N/A | N/A | N/A | N/A | N/A |
| CD16 level decrease | (+) | (+) | N/A | N/A | (+) | N/A | (+) | (+) | (+) | N/A | N/A | N/A | N/A |
| CD24 level decrease | (+) | N/A | N/A | N/A | (+) | N/A | N/A | N/A | (−) | N/A | N/A | N/A | N/A |
| CD59 level decrease | (−) | (+) | (+) | (+) | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A |
| CD48 Level decrease | N/A | N/A | N/A | N/A | (+) | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A |
| CD14 Level decrease | N/A | N/A | N/A | N/A | (+) | N/A | N/A | N/A | N/A | N/A | N/A | N/A | N/A |
M: Male; F: Female; (+): Features presented; (−): Features absented; N/A: Not applicable or not determined.