Table 2 Clinical features in patients with PNKP mutations

From: Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss

Patients This patient Shen et al., 2 Family 1 Shen et al., 2 Family 2 Shen et al., 2 Family 3 Shen et al., 2 Family 4 Shen et al., 2 Family 5 Shen et al., 2 Family 6 Shen et al., 2 Family 7 Poulton et al. 3 Carvill et al. 9
Consanguinity + + + + N.A.
Mutation c.163G>T (p.A55S), c.874G>A (p.G292R) c.976G>A (p.E326K) c.976G>A (p.E326K) c.976G>A (p.E326K) c.1253_1269dup: p.T424Gfs*49 c.1253_1269dup: p.T424Gfs*49 c.526C>T (L176F), c.1253_1269dup :p.T424Gfs*49 c.1253_1269dup : p.T424Gfs*49, c.1386+49_1387-32del: p.R433Sfs*5 c.1253_1269dup: p.T424Gfs*49 c.58C>T (p.P20S)
Microcephaly + 2/2 2/2 2/2 2/2 + 2/2 2/2 2/2
Developmental delay + 2/2 2/2 2/2 2/2 + 2/2 2/2 2/2
Seizures + 2/2 2/2 2/2 2/2 + 2/2 2/2 2/2 +
Hyperactivity 1/2 2/2 2/2 2/2 2/2 0/2 2/2
Brain MRI   N.A. N.A.        N.A.
Simplified gyral pattern +    0/2 2/2 2/2 2/2 1/2 0/2  
Thin CC +    2/2 2/2 2/2 1/2 1/2 1/2  
Reduction of white matter volume +    2/2 2/2 2/2 1/2 2/2 2/2  
Cerebellar hypoplasia +    2/2 2/2 2/2 1/2 2/2 2/2  
Enlarged ventricles +    2/2 2/2 1/2 1/2 1/2 2/2  
  1. Abbreviations: CC, corpus callosum; MRI, magnetic resonance imaging; NA, not available or assessed.