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

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


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Corpus Callosum / growth & development
  • Corpus Callosum / pathology*
  • Craniosynostoses / complications
  • Craniosynostoses / diagnosis
  • Craniosynostoses / genetics*
  • Forkhead Transcription Factors / genetics*
  • Humans
  • Infant
  • Male
  • Microcephaly / complications
  • Microcephaly / diagnosis
  • Microcephaly / genetics*
  • Nerve Tissue Proteins / genetics*
  • Point Mutation / genetics*
  • Rett Syndrome / complications
  • Rett Syndrome / diagnosis
  • Rett Syndrome / genetics*


  • FOXG1 protein, human
  • Forkhead Transcription Factors
  • Nerve Tissue Proteins