Sensorineural hearing loss and hypoplastic cochlea in Axenfeld-Rieger syndrome with FOXC1 mutation
Sensorineural hearing loss and hypoplastic cochlea in Axenfeld-Rieger syndrome with FOXC1 mutation
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DOI：
10.1016/j.anl.2020.07.006
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发表时间：
2021-08-16
影响因子：
1.7
通讯作者：
Takahashi, Makio
中科院分区：
文献类型：
--
作者：
Yamazaki, Hiroshi;Nakamura, Takeshi;Takahashi, Makio
目的：Axenfeld-Rieger综合征（ARS）3型是一种罕见的常染色体显性疾病，其特征是眼睛前部失调，听力丧失和心脏缺陷。 ARS 3型与FOXC1突变高度相关，该突变诱导神经rest细胞的发育障碍。关于ARS患者的大多数研究都集中在眼科发现上，但尚未透露其听力损失的细节。在本报告中，我们调查了ARS 3型患者的听觉学和耳动态表现，这些患者具有新型的杂合FOXC1突变引导缺失在叉子DNA结合结构域中的导致缺失。方法和结果：纯音调测定法显示双侧感觉神经性听力损失（SNHL）和听力学检查证实，耳蜗中存在主要功能障碍，而不是螺旋神经神经元和耳蜗神经。 CT和MRI揭示了两侧的型耳蜗。鉴于缺乏FOXC1基因等位基因的6P25缺失综合征显示出类似但比本病例更严重的人工耳闻畸形，因此FOXC1突变可能导致耳蜗中的低血压和功能障碍。结论：据我们所知，这是第一份报告表明，患有FOXC1突变的ARS 3型患者患有耳蜗中的发育不全和功能障碍，这导致双侧SNHL。 （c）2020年日本Oto-Rhino-Laryngologicy Inc.由Elsevier B.V.保留所有权利。
Objective: Axenfeld-Rieger syndrome (ARS) type 3 is a rare autosomal dominant disease, characterized by anterior segment dysgenesis of the eye, hearing loss, and cardiac defects. ARS type 3 is highly associated with FOXC1 mutations, which induces developmental disorders of neural crest cells. Most studies about ARS patients focused on ophthalmologic findings, but details in their hearing loss have not yet been revealed. In this report, we investigated audiological and otological manifestations in the ARS type 3 patient who had the novel heterozygous FOXC1 mutation leading deletion at the forkhead DNA-binding domain. Methods and Results: Pure tone audiometry showed bilateral sensorineural hearing loss (SNHL) and audiological examinations confirmed that major dysfunctions existed in the cochlea, rather than the spiral ganglion neurons and the cochlear nerve. CT and MRI revealed the hypoplastic cochlea at both sides. Given that the 6p25 deletion syndrome, lacking one allele of the FOXC1 gene, shows similar, but more severe cochlear malformations than the present case, the FOXC1 mutations might contribute to the hypoplasia and dysfunctions in the cochlea. Conclusion: To our knowledge, this is the first report demonstrating that the ARS type 3 patient with the FOXC1 mutation has the hypoplasia and dysfunctions in the cochlea, which results in bilateral SNHL. (c) 2020 Oto-Rhino-Laryngological Society of Japan Inc. Published by Elsevier B.V. All rights reserved.