Department of Otorhinolaryngology, Head and Neck Surgery, Brussels Health Campus, Vrije Universiteit Brussel, 1090 Brussels, Belgium.
Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University Hospital, 2650 Antwerp, Belgium.
Genes (Basel). 2021 Apr 21;12(5):613. doi: 10.3390/genes12050613.
Incomplete partition type III (IP-III) is a relatively rare inner ear malformation that has been associated with a 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 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.
不完全分隔型 III （IP-III）是一种相对罕见的内耳畸形，与基因突变有关。IP-III 异常主要表现为耳蜗蜗轴与内听道不完全分离。我们描述了一位 71 岁女性，患有深度感音神经性听力损失，经诊断为耳蜗 IP-III，行耳蜗植入术。通过非综合征基因panel 的靶向测序，我们在 基因中发现了一个杂合的 c.934G > C p. (Ala31Pro) 致病性变异，该变异此前尚未报道。耳蜗 IP-III 给耳蜗植入手术带来了两个主要挑战：脑脊液漏和电极错位。手术时，由于电极更有可能在错误的路径中错位，因此选择较短的电极数组可能更好。其次，外科医生必须非常严格地考虑耳蜗进入的插入角度，以避免沿着内耳道错位。遗传结果详细描述了基因型-表型相关性，这是一种强大的临床工具，就像本例中指导手术计划和机器人执行一样。
