Table 1C Reported cases of HPI with p.T466M variant.
From: Hyperprolinemia type I caused by homozygous p.T466M mutation in PRODH
Patient No. | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 |
|---|---|---|---|---|---|---|---|---|---|
Sex (age at diagnosis) | M (9) | M (6.5) | M (7) | F (13) | M (3) | M (3) | M (9) | M (13) | M |
Autism | +− | + | + | + | − | − | − | − | N.A |
Seizure | − | Febrile | − | + | + | + | − | + | N.A |
Psychomotor delay | − | + | + | + | − | − | − | − | N.A |
Hypotonia | − | − | + | − | − | − | − | − | N.A |
Unbalanced diet | + | N.A | N.A | N.A | N.A | N.A | N.A | N.A | N.A |
Language disorder | − | Few words | Short sentence | − | − | − | + | − | N.A |
Intellectual disability | +− | + | + | + | + | + | − | − | + |
Aggressiveness | − | + | − | − | − | − | − | − | N.A |
Plama proline level (μmol/L) | 530–625 | 930–1,000 | 595–715 | 637–1,667 | 1,200 | 414–804 | 679 | 605 | N.A |
MRI | Normal | CC enlargement | Mild CC enlargement | Normal | Normal | Abnormal | Normal | Normal | N.A |
22q11 microdeletion | − | + | − | N.A | N.A | N.A | N.A | N.A | + |
Variants | T466M/T466M + R521Q/R521Q | T466M + W185R | T466M/T466M + R453C | T466M/R453C +R431H | T466M/T466M + R453C/R453C | T466M + R453C/Q19P | T466M + R453C+W185R+Q19P+P30S/R431H | T466M + Q19P+W185R/R431H | T466M |
Reference | This study | Afenjar et al. (2007) | Guilmatre et al. (2010) | Chérot et al. (2018) |
