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首页> 外文期刊>BMC Medical Genetics >Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation
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Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation

机译：Rett综合征或Rett样智力低下的中国患者中的新型FOXG1突变

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Background We aimed to delineate clinical phenotypes associated with FOXG1 mutations in Chinese patients with Rett syndrome (RTT) or RTT-like mental retardation (MR). Methods Four hundred and fifty-one patients were recruited, including 418 with RTT and 33 with RTT-like MR. Gene mutations were identified by a target capture method and verified by Sanger sequencing. Results Four FOXG1 mutations were detected in four patients (three with RTT and one with RTT-like MR), including one previously described mutation and three novel mutations. These mutations included one missense and three micro-insertion mutations. Overall, 0.7% (3/418) of patients who had RTT in our cohort had FOXG1 mutations. All patients had early global developmental delays followed later by severe mental retardation. None of the patients acquired speech or purposeful hand movements, and all of them presented with severe hypotonia, epilepsy, and hypoplasia of the corpus callosum. Conclusions Our findings extend the spectrum of FOXG1 mutations and the clinical features of RTT in Chinese patients. We recommend that patients with congenital RTT and Rett-like MR, especially those with brain malformations, such as hypoplasia of the corpus callosum, should be tested for FOXG1 mutations.
机译：背景我们旨在描述与中国Rett综合征（RTT）或RTT样智力低下（MR）患者的FOXG1突变相关的临床表型。方法招募451例患者，其中418例为RTT，33例为RTT样MR。通过目标捕获方法鉴定基因突变，并通过Sanger测序进行验证。结果在4例患者中检测到4个FOXG1突变（3例为RTT，1例为RTT样MR），其中包括1个先前描述的突变和3个新突变。这些突变包括一个错义突变和三个微插入突变。总体而言，在我们队列中有RTT的患者中有0.7％（3/418）具有FOXG1突变。所有患者均早期出现整体发育迟缓，随后出现严重的智力低下。所有患者均无言语或有目的的手部动作，均出现严重的肌张力低下，癫痫和call体发育不全。结论我们的发现扩大了中国患者FOXG1突变的范围和RTT的临床特征。我们建议先天性RTT和Rett样MR的患者，尤其是脑畸形（如as体发育不全）的患者，应进行FOXG1突变测试。

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