Table 1 Clinical and genetic findings of PGAP1-disease
This Study | Murakami et al. | Bosch et al. | Williams et al. | Novarino et al. | Granzow et al. | |||||
|---|---|---|---|---|---|---|---|---|---|---|
II-1 | II-2 | III-2 | III-3 | IV-3 | IV-4 | I-1 | I-2 | |||
Family history | Dizygotic Caucasian twins of non-consanguineous parents | Sibling of consanguine Syrian relationship | non-consanguineous | non-consanguineous | consanguineos/1° cousins | consanguineos/1° cousins | ||||
Genotype | c.334_335InsA (p.Arg112fs) | homozygous c.589_591del (p.Leu197del) | c.274_276del (p.Pro92del) | c.1572 T > A (p.Tyr524*) | homozygous splice site mutation c.1952 + 1G > T | homozygous splice site mutation c.1090-2A > G | ||||
AND | AND | AND | ||||||||
splice site mutation c.1173G > C (p.Leu391Leu) | c.921_925del (p.Lys308Asnfs*25) | c.1396C > T p.(Gln466*) | ||||||||
Gender | M | M | F | M | M | M | M | M | M | F |
Agea | 2 | 2 | 4 5/12 | 2 9/12 | 7 10/12 | 3 | 6 6/12 | 9/12 | 8 | 4 |
Pregnancy/Birth | 30th weeks, maternal HELLP syndrome | unremarkable | planned CS, 38 weeks | 39 weeks | NA | NA | unremarkable | |||
Facial dysmorphisms | (+) | (+) | + | + | + | + | - | - | - | - |
Microcephaly | + | + | + | + | - | + | NA | NA | + | + |
Intellectual disability | + | + | IQ < 35 | IQ < 35 | IQ 49 | + | + | - | + | + |
Speech | Babble | Babble | Babble | NA | 2 6/12 | delayed | NA | NA | - | - |
Motor developmental delay | + | + | + | + | + | + | + | - | + | + |
Walking independently (years) | - | - | 4 5/12 | - | 2 6/12 | - | NA | NA | NA | - |
Hypotonia | + | + | + | + | + | + | NA | NA | + | + |
Neuropathy/Spasticity | - | - | NA | NA | - | - | + | + | - | + |
Stereotypic/dyskinetic movements | - | - | + | + | - | + | + | + | + | - |
Eating/Feeding | Milk bottles | Milk bottles | Milk bottles | Milk bottles | - | G-tube feeding | NA | NA | - | Failure to thrive |
Respiration | Recurrent apneas | Recurrent apneas | - | - | - | - | NA | NA | + | - |
Ophthalmological findings | - | - | - | - | CVI | CVI | - | - | Retinal dystrophy (ERG) | |
Seizures/EEG abnormalities | −/− | +/+ | +/NA | -/NA | -/NA | −/+ | NA | NA | −/− | −/− |
Imaging | Frontal accentuated brain atrophy and significant delayed myelination (MRI) | Brain atrophy (CT) | NA | Normal (MRI) | Thinning of thecorpus collosum, diminished white matter, prominence of the right posterior Sylvian fissure (MRI) | Prominent cortical sulci and widened sylvian fissures (MRI) | Corpus callosum agnesis, vermis hypoplasia, defective myelination (MRI) | Normal (MRI) | Normal (MRI) | |