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Abstract：
Incomplete partition type III (IP-III) is a relatively rare inner ear malformation that has been associated with a POU3F4 gene mutation. The IP-III anomaly is mainly characterized by incomplete separation of the modiolus of the cochlea from the internal auditory canal. We describe a 71-year-old woman with profound sensorineural hearing loss diagnosed with an IP-III of the cochlea that underwent cochlear implantation. Via targeted sequencing with a non-syndromic gene panel, we identified a heterozygous c.934G > C p. (Ala31Pro) pathogenic variant in the POU3F4 gene that has not been reported previously. IP-III of the cochlea is challenging for cochlear implant surgery for two main reasons: liquor cerebrospinalis gusher and electrode misplacement. Surgically, it may be better to opt for a shorter array because it is less likely for misplacement with the electrode in a false route. Secondly, the surgeon has to consider the insertion angles of cochlear access very strictly to avoid misplacement along the inner ear canal. Genetic results in well describes genotype-phenotype correlations are a strong clinical tool and as in this case guided surgical planning and robotic execution.
摘要：
III型不完全分配（IP-III）是一种相对罕见的内耳畸形，与POU3F4基因突变有关。IP-III异常的主要特征是耳蜗的节距与内部耳道的不完全分离。我们描述了一名71岁的女性，患有严重的感音神经性听力损失，被诊断为耳蜗IP-III，并接受了耳蜗植入。通过非综合征基因小组的靶向测序，我们在POU3F4基因中发现了一个杂合的c.934G>Cp。（Ala31Pro）致病性变异，以前没有报道过。耳蜗的IP-III对耳蜗植入手术具有挑战性，主要原因有两个：脑脊液喷液和电极错位。手术,选择较短的阵列可能更好,因为它不太可能在错误的路线中与电极错位。其次,外科医生必须非常严格地考虑耳蜗进入的插入角度，以避免沿内耳道的错位。很好地描述了基因型-表型相关性的遗传结果是一种强大的临床工具，在这种情况下，指导手术计划和机器人执行。
