产前诊断Ververi-Brady综合征伴新型无义QRICH1变异一例
本文报告一例产前发现的Ververi-Brady综合征（VBS）胎儿，携带新型QRICH1无义变异，为首次在宫内检出QRICH1变异并诊断VBS的病例。该病例呈现新的胎儿心脏特征，扩展了VBS的产前表型与基因型谱。
要点
- VBS为QRICH1致病变异所致的常染色体显性神经发育障碍。
- 此前所有VBS病例均为出生后诊断，本例首次实现产前检出。
- 本例携带新型QRICH1无义变异并发现新的胎儿心脏特征。
核心结论
- 首次报道产前检出胎儿VBS并发现QRICH1变异，扩展了VBS的产前表型与基因型谱。
研究设计与样本
- 病例报告（单例产前诊断病例），具体样本量与研究方法原文未详述。
主要发现
- 胎儿携带新型QRICH1无义变异，并呈现新的胎儿心脏特征。
临床怎么用
- 产前发现相关胎儿异常时，可将QRICH1变异纳入遗传学检测与VBS的鉴别诊断考虑。
局限性
- 为单例病例报告，结论的外推需更多产前病例验证。
以上解读依据论文摘要（全文未开放获取或许可不允许翻译转载）。
原文
What is already known about this topic? ◦. Ververi‐Brady syndrome (VBS) is an autosomal dominant neurodevelopmental disorder due to pathogenic variants in the QRICH1 gene. ◦. To date, all reported VBS cases were diagnosed postnatally, although some prenatal features have been described retrospectively. What does this study add? ◦. Our report is the first one to document the prenatal detection of fetal VBS with a QRICH1 variant detected in utero. ◦. Our case presented with a novel QRICH1 variant and new fetal cardiac features and expanded both the prenatal phenotypic and genotypic spectrum of VBS.
引用
- Luo HY, Huang DP, Yu QX, et al. Prenatal Diagnosis of Ververi-Brady Syndrome Associated With a Novel Nonsense QRICH1 Variant: A Case Presentation. Prenat Diagn. 2026. PMID: 42084150. doi:10.1002/pd.70166
供执业医师工作参考，不替代临床判断；数值与分级以指南原文为准。