Kalampokini Stefania, Goulis Dimitrios G, Pepe Georgia, Koukoula Stavrenia, Frontistis Antonis, Moschou Maria, Arnaoutoglou Marianthi, Papaliagkas Vasileios, Kimiskidis Vasilios K
First Department of Neurology, AHEPA University Hospital, Aristotle University of Thessaloniki, Stilponos Kyriakidi 1, 54636 Thessaloniki, Greece.
Unit of Reproductive Endocrinology, First Department of Obstetrics-Gynaecology, Aristotle University of Thessaloniki, 56429 Thessaloniki, Greece.
Int J Mol Sci. 2025 Mar 20;26(6):2812. doi: 10.3390/ijms26062812.
The DEAD/DExD/H-box RNA helicases are a group of RNA-binding proteins involved in the metabolism of mRNAs. They coordinate gene expression programs and play a role in cellular signaling, fate, and survival. We describe a case of a 36-year-old female with neuromuscular disease, sensorineural hearing loss, retinitis pigmentosa, and primary ovarian insufficiency harboring a heterozygous de novo missense pathogenic variant in the DEAH-box helicase 16 () gene. This is the first case exhibiting a high intellectual level and the highest survival outcome so far. Eight previous cases of disease-causing variant carriers have been described with common features, including muscle weakness with hypotonia, myopathy or peripheral neuropathy, sensorineural hearing loss, abnormal retinal findings, and infantile spasms or epilepsy. Increasing evidence associates RNA-binding proteins, including the DEAD/DExD/H-box helicase family genes, with neuropsychiatric or neurodevelopmental disorders. genetic analysis should be considered early when diagnosing a child or young adult with muscular disease, severe hearing loss, and ocular anomalies.
DEAD/DExD/H-box RNA解旋酶是一类参与mRNA代谢的RNA结合蛋白。它们协调基因表达程序，并在细胞信号传导、命运和存活中发挥作用。我们描述了一例36岁女性病例，该患者患有神经肌肉疾病、感音神经性听力损失、色素性视网膜炎和原发性卵巢功能不全，其DEAH-box解旋酶16（）基因存在杂合性新生错义致病性变异。这是迄今为止首例表现出高智力水平和最高生存结果的病例。之前已描述了8例疾病致病变异携带者的病例，其具有共同特征，包括肌无力伴肌张力减退、肌病或周围神经病、感音神经性听力损失、视网膜异常表现以及婴儿痉挛或癫痫。越来越多的证据表明，包括DEAD/DExD/H-box解旋酶家族基因在内的RNA结合蛋白与神经精神或神经发育障碍有关。在诊断患有肌肉疾病、严重听力损失和眼部异常的儿童或青年时，应尽早考虑进行基因分析。
