Skip to main content

Table 1 A comparison of clinical features of patients with NDE1 deletion and/or mutations

From: Severe congenital microcephaly with 16p13.11 microdeletion combined with NDE1 mutation, a case report and literature review

  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
  1. F family, P patient; +, present; −, absent; NA not announced, Hm homozygotes