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首页> 外文期刊>Brain & Development >Hypoplastic hippocampus in atypical Rett syndrome with a novel FOXG1 mutation
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Hypoplastic hippocampus in atypical Rett syndrome with a novel FOXG1 mutation

机译：具有新型FoxG1突变的非典型Rett综合征的Hypoplastic海马

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Abstract The forkhead box G1 ( FOXG1 ) gene encodes a brain-specific transcription factor and is associated with a congenital variant of atypical Rett syndrome (RTT); several FOXG1 mutations have been identified. The congenital variant of RTT shows a hypoplastic corpus callosum, delayed myelination, and frontal and temporal atrophy. Although no report has described a hippocampal abnormality in humans, the current study suggests that FOXG1 also regulates neurogenesis in the postnatal hippocampus. In the present case, severe developmental delay was observed in a patient with a congenital variant of RTT from about 4months, in conjunction with acquired microcephaly, hypotonia, limited motor function, absent purposeful hand use, and repetitive jerky movements of the upper limbs. A novel missense mutation was identified in FOXG1 on gene analysis (c. 569T>A, p. Ile190Asn). The patient showed not only the typical cerebral abnormalities of a congenital variant of RTT, but also a hypoplastic hippocampus. This novel mutation and cerebral findings may provide new insights into the pathophysiology of the congenital variant of RTT.
机译：摘要FORKHEAD框G1（FOXG1）基因编码脑特异性转录因子，与非典型RETT综合征（RTT）的先天性变异相关;已经确定了几种FOXG1突变。 RTT的先天性变异显示出软骨胼callosum，延迟髓鞘，骨髓间和额腹萎缩。虽然没有报告在人类中描述了海马异常，但目前的研究表明Foxg1还调节产后海马的神经发生。在本案例中，在患者中观察到具有RTT的先天性变异的患者中，与所获得的粒子畸形，低呼吸道，有限的电机功能，缺乏有目的的手使用和上肢的重复的混蛋动作，在患者中观察到严重的发育延迟。在基因分析中鉴定了一种新的小麦静脉突变（C.569T> A，P. ILE190ASN）。患者不仅表明了RTT的先天性变异的典型脑异常，还显示出软骨痉挛的海马。这种新的突变和脑发现可以为RTT先天性变异的病理生理学提供新的见解。

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