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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.