Is the Conductive Hearing Loss in <b><i>NOG</i></b>-Related Symphalangism Spectrum Disorder Congenital?
Is the Conductive Hearing Loss in <b><i>NOG</i></b>-Related Symphalangism Spectrum Disorder Congenital?
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<b><i>NOG</i></b>相关的交感神经谱系障碍的传导性听力损失是先天性的吗？
DOI：
10.1159/000512668
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发表时间：
2021
期刊：
影响因子：
--
通讯作者：
Tono Tetsuya
中科院分区：
文献类型：
--
作者：
Nakashima Takahiro;Ganaha Akira;Tsumagari Shougo;Nakamura Takeshi;Yamada Yuusuke;Nakamura Eriko;Usami Shin-ichi;Tono Tetsuya
我们描述了一个占主导地位的日本患者进行性传导性听力损失谁被诊断为NOG相关的指（趾）合症谱系障碍（NOG-SSD），一系列的先天性镫骨固定综合征引起的NOG突变。根据其临床表现，包括近端指关节粘连、传导性听力损失、远视以及拇指短、宽、中、远端指骨，诊断为镫骨强直伴宽拇指和脚趾综合征（SABTT）。遗传分析显示NOG基因中存在杂合替换，c。645 C> A，p. C215* 在受影响的家庭个体中。他在9个月、1岁和2岁时的听性脑干反应（ABR）测试听力正常。由于他有SABTT导致的听力损失家族史，因此对其进行了随访以评估听力水平。随访纯音平均测试显示进展性传导性听力损失的发展。进行了镫骨手术，术后双耳听阈恢复正常。根据听力测试结果，我们的SABTT患者的镫骨强直似乎在出生时是不完整的，并在儿童早期进行性。在我们的病人的ABR结果表明，新生儿听力筛查可能无法检测传导性听力损失的NOG-SSD患者的可能性。因此，有家族史和/或已知先天性关节异常的儿童应定期进行听力测试，因为可能会出现进行性听力损失。由于在SABTT病例中镫骨手术的成功率很高，早期手术干预将有助于最大限度地减少学龄期听力损失的负面影响。识别由于进行性镫骨强直引起的传导性听力损失的性质，可以为NOG-SSD患者提供更好的遗传咨询和适当的干预。
We describe a dominant Japanese patient with progressive conductive hearing loss who was diagnosed with NOG-related symphalangism spectrum disorder (NOG-SSD), a spectrum of congenital stapes fixation syndromes caused by NOG mutations. Based on the clinical features, including proximal symphalangism, conductive hearing loss, hyper-opia, and short, broad middle, and distal phalanges of the thumbs, his family was diagnosed with stapes ankylosis with broad thumbs and toes syndrome (SABTT). Genetic analysis revealed a heterozygous substitution in the NOG gene, c. 645C> A, p. C215* in affected family individuals. He had normal hearing on auditory brainstem response (ABR) testing at ages 9 months and 1 and 2 years. He was followed up to evaluate the hearing level because of his family history of hearing loss caused by SABTT. Follow-up pure tone average testing revealed the development of progressive conductive hearing loss. Stapes surgery was performed, and his post-operative hearing threshold improved to normal in both ears. According to hearing test results, the stapes ankylosis in our SABTT patient seemed to be incomplete at birth and progressive in early childhood. The ABR results in our patient indicated the possibility that newborn hearing screening may not detect conductive hearing loss in patients with NOG-SSD. Hence, children with a family history and/or known congenital joint abnormality should undergo periodic hearing tests due to possible progressive hearing loss. Because of high success rates of stapes surgeries in cases of SABTT, early surgical interventions would help minimise the negative effect of hearing loss during school age. Identification of the nature of conductive hearing loss due to progressive stapes ankylosis allows for better genetic counselling and proper intervention in NOG-SSD patients.
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DOI：
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发表时间：
1972
期刊：
La Nouvelle presse medicale
影响因子：
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作者：
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DOI：
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发表时间：
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期刊：
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1990
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DOI：
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发表时间：
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期刊：
Journal of Bone and Joint Surgery. American volume
影响因子：
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作者：
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通讯作者：
B. Hall