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Eur J Paediatr Neurol. 2014 May;18(3):420-6. doi: 10.1016/j.ejpn.2013.11.010. Epub 2013 Dec 6.

Thin genu of the corpus callosum points to mutation in FOXG1 in a child with acquired microcephaly, trigonocephaly, and intellectual developmental disorder: a case report and review of literature.

Author information

1
Department of Paediatrics, UZ Brussel, Brussels, Belgium. Electronic address: caroline.debruyn@uzbrussel.be.
2
Department of Radiology, UZ Brussel, Brussels, Belgium.
3
Centre for Medical Genetics, UZ Brussel, Brussels, Belgium.
4
Department of Neurosurgery, UZ Brussel, Brussels, Belgium.
5
Paediatric Neurology Unit, Department of Paediatrics, UZ Brussel, Brussels, Belgium.
6
Paediatric Neurology Unit, Department of Paediatrics, UZ Brussel, Brussels, Belgium; Department of Public Health, Vrije Universiteit Brussel, Brussels, Belgium.

Abstract

The FOXG1 syndrome is emerging as a relative new entity in paediatric neurology. We report a boy with acquired microcephaly, mental retardation and a thin genu of the corpus callosum. The combination of these findings led to mutation analysis of FOXG1. The patient was found to be heterozygous for a novel mutation in FOXG1, c.506dup (p.Lys170GInfsX285), which occurred de novo. This frameshift mutation disturbs the three functional domains of the FOXG1 gene. Hypo- or agenesis of the anterior corpus callosum in combination with acquired microcephaly and neurologic impairment can be an important clue for identifying patients with a mutation in FOXG1.

KEYWORDS:

Corpus callosum; FOXG1; Gyral simplification; Intellectual developmental disorder; Microcephaly

PMID:
24388699
DOI:
10.1016/j.ejpn.2013.11.010
[Indexed for MEDLINE]

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