CC BY-NC-ND 4.0 · Laryngorhinootologie 2018; 97(S 02): S272
DOI: 10.1055/s-0038-1640655
Otologie: Otology
Georg Thieme Verlag KG Stuttgart · New York

Cochlear Implant Performance in patients with TMPRSS3 mutations

A Tropitzsch
1  Universitätsklinik für Hals-Nasen-Ohren-Heilkunde, Tübingen
N Knoblich
2  Universitäts-HNO-Klinik, Tübingen
M Müller
2  Universitäts-HNO-Klinik, Tübingen
S Biskup
3  Praxis für Humangenetik/CeGAT GmbH, Tübingen
H Löwenheim
2  Universitäts-HNO-Klinik, Tübingen
M Holderried
2  Universitäts-HNO-Klinik, Tübingen
H Rask-Andersen
4  Universität Uppsala, Uppsala, Schweden
› Author Affiliations
Further Information

Publication History

Publication Date:
18 April 2018 (online)



Little is known about the influence of genetic factors on the functional outcome after cochlear implantation.

Most descriptions are limited to case reports. High-throughput sequencing allows the parallel genetic diagnosis of almost all known genes for deafness.


In total, more than 120 patients with severe to profound hearing loss or deafness and cochlear implantation were evaluated using high-throughput sequencing. The genetic findings were correlated with the audiologically obtained functional outcome after cochlear implantation.


The most commonly mutated genes include GJB2, MYO15A, MYO7A, SLC26A4, CDH23, and MYH14. The functional results of cochlear implantation corresponds the known standard of therapy (60 – 70% in the Freiburg word test). For individual genes, in particular the TMPRSS3 gene (n = 5), the results were far below average. For the TMPRSS3 gene, the limited functional results correlate with the expression of TMPRSS3 in the human spiral ganglia.


Animal experiments have shown that in addition to the sensory cells, the spiral ganglia also degenerate in mutations in the TMPRSS3 gene. The limited functional results in TMPRSS3 mutations can be explained by a loss of spiral ganglia.