Table 1.
Comparison of the Clinical Features of Individuals with Mutations in PIGU versus Previously Reported Individuals with Mutations in PIGT, PIGS, and GPAA1
| PIGU P-1 | PIGU P-2 | PIGU P-3 | PIGU P-4 | PIGU P-5 | PIGT (n = 13)19, 20, 22, 23, 24, 25 | PIGS (n = 6)7 | GPAA1 (n = 10)5 | |
|---|---|---|---|---|---|---|---|---|
| Age | 19 years | 12 years | 17 years | 12 years | 5 years | 11 months to 12 years | prenatal to 5.5 years | 4 to 30 years |
| Measurements | microcephaly | normal | Normal | normal | macrocephaly | microcephaly (2/9, 3 ND) | microcephaly (2/4, 2 ND) | short stature (5/10), microcephaly (1/10) |
| Alkaline phosphatase | normal | normal | Normal | normal | normal | low 8/13 | normal (6/6) | normal (10/10) |
| Developmental delay | profound | profound | Profound | severe | profound | profound (13/13) | yes (4/4, 2 ND) | mild to moderate (10/10) |
| Intellectual disability | profound | profound | Profound | severe | profound | profound (13/13) | yes (4/4, 2 ND) | mild to moderate (10/10) |
| Muscular hypotonia | yes | yes | Yes | yes | yes, severe | yes (13/13) | yes (4/4, 2 ND) | yes (10/10) |
| Spasticity | yes | yes | no | no | no | ND | no | yes (4/9, 1 ND) |
| Seizures | yes | yes | Yes | yes | yes | yes (13/13) | yes (4/4, 2 ND) | yes (7/10) |
| Cerebral atrophy | global | global | no | frontal | mild global | yes (9/11, 2 ND) | yes (2/4, 2 ND) | no |
| Cerebellar hypoplasia | progressive | no | progressive | progressive | no | yes (9/11) | yes (4/4, 2 ND) | yes (9/10) |
| Cortical blindness | yes | yes | no | no | yes | yes (9/9) | yes (3/4) | yes (1/10) |
| Strabismus | yes | yes | yes | yes | yes | yes (9/9) | ND | ND |
| Nystagmus | no | no | no | no | yes | ND | yes (3/4) | yes (7/10) |
| Scoliosis | severe | severe | severe | yes | severe | yes (5/7) | yes (1/4) | mild (n = 1) |
| Osteopenia | yes | ND | ND | ND | ND | yes (7/9) | ND | yes (8/10) |
| other | slender bones | no | no | no | no | no | brachydactyly (4/6) | no |
“ND” indicates not documented.