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

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• 作者：Caroline De Bruyn^a ; ^{caroline.debruyn@uzbrussel.be" class="auth_mail} ; ^{caroline.de.bruyn@gmail.com" class="auth_mail} ; Tim Vanderhasselt^b ; Ibrahim Tanyalç ; in^c ; Kathelijn Keymolen^c ; Katrijn L. Van Rompaey^d ; Linda De Meirleir^e ; Anna C. Jansen^e ; ^f
• 关键词：FOXG1 ; Corpus callosum ; Gyral simplification ; Microcephaly ; Intellectual developmental disorder
• 刊名：European Journal of Paediatric Neurology
• 出版年：May 2014
• 年：2014
• 卷：18
• 期：3
• 页码：420-426
• 全文大小：1174 K

文摘

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.