鉴定了一种新的 de novo NONO 变异,导致胎儿的 X 相关综合征性智力发育障碍-34

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Updated: Jan 12, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

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Ruchun Huang1, Siqi Wu1, Hongke Ding2

  • 1Department of Medical genetics and prenatal diagnosis, Longgang District Maternity & Child Healthcare Hospital of Shenzhen City (Affiliated Shenzhen Women and Children's Hospital (Longgang) of Shantou University Medical College), Shenzhen, Guangdong, China.

European journal of obstetrics, gynecology, and reproductive biology
|November 8, 2025
PubMed
概括

这项研究证实了一种新的NONO基因变异 (c.214C>T) 导致严重的胎儿异常. 功能性研究揭示了功能丧失,扩大了已知的NONO相关疾病谱.

关键词:
功能丧失 (LoF) 的情况没有 (p54nrb)没有紧缩性心肌病变性.三元整体外组测序与X相关的综合征性智力发育障碍-34 (MRXS34)

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