A New Pathogenic Variant in POU3F4 Causing Deafness Due to an Incomplete Partition of the Cochlea Paved the Way for Innovative Surgery

Ahmet M Tekin, Marco Matulic, Wim Wuyts, Masoud Zoka Assadi, Griet Mertens, Vincent van Rompaey, Yongxin Li, Paul van de Heyning, Vedat Topsakal

Research output: Contribution to journalArticle

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.

Original languageEnglish
Article number613
Number of pages14
JournalGenes
Volume12
Issue number5
DOIs
Publication statusPublished - May 2021

Keywords

  • DFNX2
  • IP-III anomaly
  • POU3F4
  • image guided surgery
  • robotically assisted cochlear implantation surgery
  • sensorineural hearing loss

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