在患有神经肌肉眼听力综合征的婴儿中严重的斑点缩
Justin S Yun1, Marcus H Yamamoto2,3, Alejandro I Marin2
1David Geffen School of Medicine, University of Hawaii at Manoa, Honolulu, Hawaii.
Ophthalmic surgery, lasers & imaging retina
|October 6, 2025
概括
DHX16基因中的致病变异会导致神经肌肉眼听力综合征 (NMOAS),这是一个罕见的疾病. 这一案例突出显示了在患有听力损失,低血压和视网膜发育不良的婴儿中出现的新的DHX16变异,并强调了基因测试.
科学领域:
- 遗传学 是一个遗传学.
- 眼科医生 眼科 眼科
- 神经学 神经学
背景情况:
- 神经肌肉眼听力综合征 (NMOAS) 是一种罕见的遗传疾病.
- 它的特点是感觉神经听力损失,神经肌肉缺陷和视网膜异常.
- 在DEAH盒子酶16 (DHX16) 基因中的致病变体与NMOAS有关.
研究的目的:
- 在婴儿中报告罕见的NMOAS病例.
- 描述临床和遗传发现.
- 为了扩大对DHX16相关NMOAS的理解.
主要方法:
- 临床检查包括眼科评估.
- 光谱域光学连贯性断层扫描 (SD-OCT).
- 整个三组基因组测序.
主要成果:
- 一个6个月大的女孩出现了先天性神经神经听力损失,全球性低血压和双边视网膜缩.
- 眼科发现包括严重的黄斑缩和外周色素变化.
- 整个三组基因组测序发现了一个可能的致病性新型异质合体DHX16变体 (c.1360C>T,p.Arg454Trp).
结论:
- 这种情况扩大了DHX16相关NMOAS的表型谱.
- 综合眼科评估和遗传分析对于诊断多系统参与的婴儿至关重要.
- 确定的DHX16变种,以前仅在一个患者中报告,可能是致病的.
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