|
Title
|
|
|
|
A new pathogenic variant in POU3F4 causing deafness due to an incomplete partition of the cochlea paved the way for innovative surgery
| |
|
Author
|
|
|
|
| |
|
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. |
| |
|
Language
|
|
|
|
English
| |
|
Source (journal)
|
|
|
|
Genes / Molecular Diversity Preservation International. - Basel, 2010, currens
| |
|
Publication
|
|
|
|
Basel
:
Molecular Diversity Preservation International (MDPI)
,
2021
| |
|
ISSN
|
|
|
|
2073-4425
| |
|
DOI
|
|
|
|
10.3390/GENES12050613
| |
|
Volume/pages
|
|
|
|
12
:5
(2021)
, 14 p.
| |
|
Article Reference
|
|
|
|
613
| |
|
ISI
|
|
|
|
000653943800001
| |
|
Pubmed ID
|
|
|
|
33919129
| |
|
Medium
|
|
|
|
E-only publicatie
| |
|
Full text (Publisher's DOI)
|
|
|
|
| |
|
Full text (open access)
|
|
|
|
| |
|