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首页> 外文期刊>Otology and neurotology: official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology >Proximal Symphalangism, Hyperopia, Conductive Hearing Impairment, and the NOG Gene: 2 New Mutations
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Proximal Symphalangism, Hyperopia, Conductive Hearing Impairment, and the NOG Gene: 2 New Mutations

机译：近端交响乐，远视，导电性听力障碍和NOG基因：2新突变

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Objectives: To report on 2 families with proximal symphalangism syndrome and 2 new NOG gene mutations and to report on the outcomes of exploratory tympanotomy. Study Design: Retrospective chart study. Setting: Tertiary referral center.Patients: A total of 6 patients, one of which underwent an exploratory tympanotomy, were examined from 2 families. Intervention: Exploratory tympanotomy in 1 patient. Main Outcome Measures: Medical and otologic histories and postoperative hearing outcomes.Results: In the patient that was operated upon, the preoperative air conduction hearing threshold of 55 dB was reduced to 41 dB with a residual air bone gap of 21 dB. Furthermore, deoxyri-bonucleic acid analysis revealed 2 different mutations: a heterozygous nonsense mutation in the NOG gene, C.391OT (p.Glnl31X), and a frameshift mutation in the NOG gene (NOG, c.304del (p.AlalO2fs)).Conclusion: NOG gene mutations, which lead to aberrant noggin protein function, give rise to a large spectrum of clinical findings and different symphalangism syndromes. These syndromes are all allelic disorders within the Noggin phenotype spectrum. We report on 2 new mutations that are supplementary to those previously described in the literature.
机译：目的：报告2个近端交响综合征和2个新的NOG基因突变的家庭，并报告探索性鼓膜切开术的结果。研究设计：回顾性图表研究。设置：三级转诊中心。患者：总共6例接受了探索性鼓膜切开术，其中1例接受了探索性鼓膜切开术。干预：1例患者的探索性鼓膜切开术。主要结局指标：医学和耳科历史和术后听力结果。分析：在操作的患者中，术前传导听力阈值55 dB的阈值降低至41 dB，残留的空气骨间隙为21 dB。此外，脱氧基因核酸分析显示了2种不同的突变：NOG基因中的杂合无义突变，C.391OT（P.GLNL31X）（p.glnl31x）和NOG基因中的Frameshift突变（NOG，C.304DEL（c.304del（P.Alalo2fs））） 。判定：导致Noggin蛋白功能异常的NOG基因突变会导致大量临床发现和不同的交响乐综合症。这些综合征是Noggin表型谱中的所有等位基因疾病。我们报告了2个新突变，这些突变是文献中先前描述的新突变。

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