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. 2023 Mar 30;13(7):1300.
doi: 10.3390/diagnostics13071300.

The Impact of the IKBKG Gene on the Appearance of the Corpus Callosum Abnormalities in Incontinentia Pigmenti

Snežana Minić  1 , Nataša Cerovac  2 , Ivana Novaković  3 , Slobodan Gazikalović  4 , Svetlana Popadić  1 , Dušan Trpinac  5
Affiliations

The Impact of the IKBKG Gene on the Appearance of the Corpus Callosum Abnormalities in Incontinentia Pigmenti

Snežana Minić et al. Diagnostics (Basel). .

Abstract

Incontinentia pigmenti (IP) is a rare skin disease combined with anomalies of the teeth, eyes, and central nervous system (CNS). Mutations of the IKBKG gene are responsible for IP. Among the most frequent CNS abnormalities found in IP using magnetic resonance imaging (MRI) are corpus callosum (CC) abnormalities. The aim of the study was to determine the presence of CC abnormalities, their relationship with the IKBKG mutations, and the possible presence of mutations of other genes. A group of seven IP patients was examined. Analyses of the IKBKG gene and the X-chromosome inactivation pattern were performed, as well as MRI and whole exome sequencing (WES) with the focus on the genes relevant for neurodegeneration. WES analysis showed IKBKG mutation in all examined patients. A patient who had a mutation of a gene other than IKBKG was excluded from further study. Four of the seven patients had clinically diagnosed CNS anomalies; two out of four had MRI-diagnosed CC anomalies. The simultaneous presence of IKBKG mutation and CC abnormalities and the absence of other mutations indicate that IKBKG may be the cause of CC abnormalities and should be included in the list of genes responsible for CC abnormalities.

Keywords: IKBKG gene mutation; X-chromosome inactivation; central nervous system (CNS); corpus callosum; incontinentia pigmenti; magnetic resonance imaging (MRI); whole exome sequencing (WES).

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
(Case 1) (A) Sagittal T1 MPRAGE magnetic resonance image at the age of two shows macrocrania, thinning of CC and a pineal gland cyst. (B) Coronal T2W magnetic resonance plane shows mild atrophy of bilateral frontal white matter with dilated extracerebral liquor spaces. (C,D) Axial T2 FLAIR magnetic resonance planes show that lateral ventricles are slightly dilated with gliotic changes in periventricular and frontal regions.
Figure 2
Figure 2
(Case 2) (A) Sagittal T2W magnetic resonance image at the age of one shows CC hypoplasia especially of the rostrum and body. (B) Axial T2W magnetic resonance image shows brain atrophy, supratentorial white matter reduction with elevated IS on T2W/FLAIR and gliotic changes. Mild bilateral non-progressive ventriculomegaly is more prominent on the left.
Figure 3
Figure 3
(Case 3) Sagittal (A), coronal (B) and axial (C) T2 FLAIR magnetic resonance images at the age of 2.5 showing small foci of hyperintensities, which appear in a band and triangle-like shape, spreading from subcortical white matter to the left lateral ventricle similarly to radial migration lines. (D) IP skin changes in the form of Blaschko lines on the same side of the scalp where the small foci of hyperintensities were found.
Figure 4
Figure 4
(Case 4) (A) Sagittal and (B) coronal T2W magnetic resonance images at the age of nine months without pathological findings.
Figure 5
Figure 5
(Case 5) (A) Sagittal and (B) coronal T2W magnetic resonance images at the age of two without pathological findings.
Figure 6
Figure 6
(Case 6) (A) Sagittal and (B) coronal T2W magnetic resonance images at the age of one and a half without pathological findings.
See this image and copyright information in PMC

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