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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
  1. * Three of them were males.
  2. ** All 7 patients were females.