Table 4 Number of IP patients with CNS anomalies and confirmed IKBKG mutations, CNS anomaly types, and its distribution according to type of IKBKG mutation for the 2001–2012 period
From: Systematic review of central nervous system anomalies in incontinentia pigmenti
Type of IKBKG mutation | Total number of | Distribution of CNS types of anomalies in number | |||||||
|---|---|---|---|---|---|---|---|---|---|
Genetically confirmed IP patients with CNS anomalies | CNS anomaly types in genetically confirmed IP patients | CNS anomaly types per patient | Genetically confirmed IP patients with confirmed imaging lesion findings | Seizures | Mental retardation | Motor impairment | Microcephaly | CNS anomaly types found in small number, unspecified or asymptomatic | |
All IKBKG mutations | 50* | 77 | 1.54 | 28 | 30 | 11 | 13 | 3 | 20 |
IKBKG exon 4–10 deletion | 43* | 61 | 1.42 | 27 | 28 | 9 | 9 | 1 | 14 |
Other than IKBKG exon 4–10 deletion | 7** | 16 | 2.28 | 1 | 2 | 2 | 4 | 2 | 6 |