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 |