title: 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.
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.
authors.affiliation: Department of Paediatrics, UZ Brussel, Brussels, Belgium. Electronic address: caroline.debruyn@uzbrussel.be.
authors.forename: Caroline
authors.initials: C
authors.lastname: De Bruyn
authors.affiliation: Department of Radiology, UZ Brussel, Brussels, Belgium.
authors.forename: Tim
authors.initials: T
authors.lastname: Vanderhasselt
authors.affiliation: Centre for Medical Genetics, UZ Brussel, Brussels, Belgium.
authors.forename: Ibrahim
authors.initials: I
authors.lastname: Tanyalçin
authors.affiliation: Centre for Medical Genetics, UZ Brussel, Brussels, Belgium.
authors.forename: Kathelijn
authors.initials: K
authors.lastname: Keymolen
authors.affiliation: Department of Neurosurgery, UZ Brussel, Brussels, Belgium.
authors.forename: Katrijn L
authors.initials: KL
authors.lastname: Van Rompaey
authors.affiliation: Paediatric Neurology Unit, Department of Paediatrics, UZ Brussel, Brussels, Belgium.
authors.forename: Linda
authors.initials: L
authors.lastname: De Meirleir
authors.affiliation: Paediatric Neurology Unit, Department of Paediatrics, UZ Brussel, Brussels, Belgium; Department of Public Health, Vrije Universiteit Brussel, Brussels, Belgium.
authors.forename: Anna C
authors.initials: AC
authors.lastname: Jansen
mesh_terms: D003337:Corpus Callosum / Q000254:growth & development / Q000473:pathology*; D003398:Craniosynostoses / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D051858:Forkhead Transcription Factors / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008831:Microcephaly / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D015518:Rett Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics*
chemical_list: C090173:FOXG1 protein, human; D051858:Forkhead Transcription Factors; D009419:Nerve Tissue Proteins
keywords: Corpus callosum; FOXG1; Gyral simplification; Intellectual developmental disorder; Microcephaly