Skip to main content

Table 5 List of IKBKG mutations except IKBKG exon 4–10 deletion for the 2001–2012 period in IP patients with CNS anomalies

From: Systematic review of central nervous system anomalies in incontinentia pigmenti

Reference Type of IKBKG mutation Type of anomalies Diagnosis
Rola et al. 2004[18] Nonsense mutation c.397C>T (p.Gln133Term) Motor impairment Incontinentia pigmenti
Fusco et al. 2004[12] 266–269delAGA Seizures Incontinentia pigmenti
Spastic paresis
Mental/motor retardation
Microcephaly
  1150C!T 1 unspecified* frequent anomaly Incontinentia pigmenti
  1077–1078delC 3 unspecified* frequent anomalies Incontinentia pigmenti
  1115–1116delT 1 unspecified* frequent anomaly Incontinentia pigmenti
Martinez-Pomar et al. 2005[19] Frameshift mutation c.792dupA (p.Gln265ThrfsX19) Motor impairment Incontinentia pigmenti, transient immunodeficiency
Sebban-Benin et al. 2007[11] Missense mutation c.967G>C (p.Ala323Pro) Seizures Incontinentia pigmenti
   Mental retardation  
   Motor impairment  
   Microcephaly  
  1. All IP patients were females.
  2. * Unspecified frequent anomalies: seizures, motor impairment, mental retardation and microcephaly.