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.

call 体的薄型指出了获得性小头畸形患儿 FOXG1 的突变 ，三角头,智力发育障碍 1 例报告并文献复习.

• 影响指数: 3.692
• 发表时间: May 2014
• 来源期刊: Eur J Paediatr Neurol
• DOI: 10.1016/j.ejpn.2013.11.010
• PMID: 24388699
• 文章类型: Case Reports
• 中科院分区: Q3
• 方向: 医学
• 作者列表: De Bruyn C,Vanderhasselt T,Tanyalçin I,Keymolen K,Van Rompaey KL,De Meirleir L,Jansen AC

关键词: Corpus callosum; FOXG1; Gyral simplification; Intellectual developmental disorder; Microcephaly

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

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.

摘要

FOXG1综合征正在成为儿科神经病学的一个相对新的实体。我们报告了一个获得性小头畸形的男孩，精神发育迟钝和胼胝体稀薄。这些发现的组合导致FOXG1的突变分析。该患者被发现是FOXG1中一种新突变的杂合子，c.506dup（p。Lys170GInfsX285),这是从头发生的。这种移码突变扰乱了FOXG1基因的三个功能域。call体前体发育不全或发育不全与获得性小头畸形和神经系统损害相结合，可能是鉴定FOXG1突变患者的重要线索。