Table 1 A comparison of clinical features of patients with NDE1 deletion and/or mutations
Bakircioglu et al. | Alkuraya et al. | Guven et al. | Paciorkowski et al. | Present work | |||||
|---|---|---|---|---|---|---|---|---|---|
Characteristics | F1 (P1-P4) | F2 (P5) | F3 (P6) | F4 (P7-P8) | F5 (P9-P10) | F6 (P11-P12) | P13 | P14 | P15 |
Ethnicity | Pakistani | Pakistani | Turkish | Saudi Arabian | Saudi Arabian | Slovak | Caucasian | Caucasian | Chinese |
Number of patients | 3 males & 1 female | 1 male | 1 male | 2 females | 1 male & 1 female | 1 male & 1 female | 1 male | 1 male | |
Survival and reported age | died in the first 5 years of life | alive,NA | alive,7 years, 5.5 years | alive,3.5 years, NA | alive,19 years,17 years | alive,15 years | died at the age of 10 years | alive,8 months | |
Postnatal growth delay | – | – | – | + | + | + | + | + | + |
Mental retardation | + | + | + | + | + | + | + | + | + |
Microcephaly | + | + | + | + | + | + | + | + | + |
Corpus callosum Agenesis | + | + | + | + | + | + | + | + | + |
Ventricular enlargement | + | + | + | + | + | + | NA | NA | + |
Cerebellum | Hypoplastic | Hypoplastic | Hypoplastic | Proportionate reduction | Proportionate reduction | Hypoplastic | Proportionate reduction | NA | normal |
Seizures | + | + | + | – | + | + | + | single seizure during infancy | – |
Muscle tone | NA | NA | NA | increased | decreased | NA | NA | NA | increased |
prominent broad nasal bridge | NA | NA | NA | + | + | + | NA | NA | + |
Genetic mutations | c.684_685delAC (hm) | c.684_685delAC (hm) | c.83 + 1G > T (hm) | c.684_685delAC (hm) | c.733dupC (hm) | c.-43_ + 83del (hm) | c.130C > T 16p13.11 deletion | c.908_909delGA 16p13.11 deletion | c.555_556GC > CT 16p13.11 deletion |
Amino acid change | P229WfsX85 | P229WfsX85 | A29QfsX114 | P229WfsX85 | L245PfsX70 | null allele | R44X | R303TfsX11 | K185N&Q186X |