Table 1 Clinical features of all patients described with a PAK2 potentially pathogenic variation in the literature
This study | PAK2 associated | PAK2 associated | |
|---|---|---|---|
Genotype | NM_002577.4:c.836 A > C p.(Gln279Pro) | NM_002577.4: c.1303G > A, p.Glu435Lys NM_002577.4:c.1273G > A, p.Asp425Asn NM_002577.4:c.1115 A > T, p.Asp372Val NM_002577.4:c.1217 C > T, p.Thr406Met | NM_002577.4:c.1051G > T, p.Glu351Ter NM_002577:c.758 A > C, p.Glu253Ala NM_002577:c.451 C > T, p.Pro151Ser NM_002577:c.1435 C > T, p.Arg479Ter |
De novo | yes | yes (all) | yes (all) |
Neurologic defects | |||
Developmental delay | NA | 3/5 | 1/4 |
Intellectual deficiency | NA | 1/5 (lack of late infancy data) | NA |
ASD | NA | 1/5 | 2/4 |
Other defects | NA | Neural tube defect 2/5 | Neural tube defect 2/4 |
Ophtalmologic defects | No | ||
Retinal detachment | NA | 5/5 | |
Visual impairment | NA | 5/5 | |
Enucleation | NA | 2/5 | |
Pneumologic defects | No | ||
Pleural effusion | Yes (chylothorax) | 2/5 (1 chylothorax) | |
Interstitial disease | NA | 3/5 | |
Neonatal respiratory distress | Yes | 4/5 | |
Other defects | No | ||
Cardiac defects (ASD, VSD, PDA) | No | 4/5 | |
Purpura fulminans | No | 1/5 | |
Enamel hypoplasia | NA | 3/5 | |
Specific facial features | No | 2/5 |