Clinical and Molecular Aspects Associated with Defects in the Transcription Factor POU3F4: A Review
X-linked deafness (DFNX) is estimated to account for up to 2% of cases of hereditary hearing loss and occurs in both syndromic and non-syndromic forms. <i>POU3F4</i> is the gene most commonly associated with X-linked deafness (DFNX2, DFN3) and accounts for about 50% of the cases of X-lin...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2023-06-01
|
| Series: | Biomedicines |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2227-9059/11/6/1695 |
| _version_ | 1797595973844729856 |
|---|---|
| author | Emanuele Bernardinelli Florian Huber Sebastian Roesch Silvia Dossena |
| author_facet | Emanuele Bernardinelli Florian Huber Sebastian Roesch Silvia Dossena |
| author_sort | Emanuele Bernardinelli |
| collection | DOAJ |
| description | X-linked deafness (DFNX) is estimated to account for up to 2% of cases of hereditary hearing loss and occurs in both syndromic and non-syndromic forms. <i>POU3F4</i> is the gene most commonly associated with X-linked deafness (DFNX2, DFN3) and accounts for about 50% of the cases of X-linked non-syndromic hearing loss. This gene codes for a transcription factor of the POU family that plays a major role in the development of the middle and inner ear. The clinical features of POU3F4-related hearing loss include a pathognomonic malformation of the inner ear defined as incomplete partition of the cochlea type 3 (IP-III). Often, a perilymphatic gusher is observed upon stapedectomy during surgery, possibly as a consequence of an incomplete separation of the cochlea from the internal auditory canal. Here we present an overview of the pathogenic gene variants of <i>POU3F4</i> reported in the literature and discuss the associated clinical features, including hearing loss combined with additional phenotypes such as cognitive and motor developmental delays. Research on the transcriptional targets of POU3F4 in the ear and brain is in its early stages and is expected to greatly advance our understanding of the pathophysiology of POU3F4-linked hearing loss. |
| first_indexed | 2024-03-11T02:43:58Z |
| format | Article |
| id | doaj.art-9b3e2f378ef04599936a09fa0e33a881 |
| institution | Directory Open Access Journal |
| issn | 2227-9059 |
| language | English |
| last_indexed | 2024-03-11T02:43:58Z |
| publishDate | 2023-06-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Biomedicines |
| spelling | doaj.art-9b3e2f378ef04599936a09fa0e33a8812023-11-18T09:26:54ZengMDPI AGBiomedicines2227-90592023-06-01116169510.3390/biomedicines11061695Clinical and Molecular Aspects Associated with Defects in the Transcription Factor POU3F4: A ReviewEmanuele Bernardinelli0Florian Huber1Sebastian Roesch2Silvia Dossena3Institute of Pharmacology and Toxicology, Paracelsus Medical University, 5020 Salzburg, AustriaInstitute of Pharmacology and Toxicology, Paracelsus Medical University, 5020 Salzburg, AustriaDepartment of Otorhinolaryngology, Head and Neck Surgery, Paracelsus Medical University, 5020 Salzburg, AustriaInstitute of Pharmacology and Toxicology, Paracelsus Medical University, 5020 Salzburg, AustriaX-linked deafness (DFNX) is estimated to account for up to 2% of cases of hereditary hearing loss and occurs in both syndromic and non-syndromic forms. <i>POU3F4</i> is the gene most commonly associated with X-linked deafness (DFNX2, DFN3) and accounts for about 50% of the cases of X-linked non-syndromic hearing loss. This gene codes for a transcription factor of the POU family that plays a major role in the development of the middle and inner ear. The clinical features of POU3F4-related hearing loss include a pathognomonic malformation of the inner ear defined as incomplete partition of the cochlea type 3 (IP-III). Often, a perilymphatic gusher is observed upon stapedectomy during surgery, possibly as a consequence of an incomplete separation of the cochlea from the internal auditory canal. Here we present an overview of the pathogenic gene variants of <i>POU3F4</i> reported in the literature and discuss the associated clinical features, including hearing loss combined with additional phenotypes such as cognitive and motor developmental delays. Research on the transcriptional targets of POU3F4 in the ear and brain is in its early stages and is expected to greatly advance our understanding of the pathophysiology of POU3F4-linked hearing loss.https://www.mdpi.com/2227-9059/11/6/1695POU3F4X-linked deafnesstranscription factorhearing lossgene variants |
| spellingShingle | Emanuele Bernardinelli Florian Huber Sebastian Roesch Silvia Dossena Clinical and Molecular Aspects Associated with Defects in the Transcription Factor POU3F4: A Review Biomedicines POU3F4 X-linked deafness transcription factor hearing loss gene variants |
| title | Clinical and Molecular Aspects Associated with Defects in the Transcription Factor POU3F4: A Review |
| title_full | Clinical and Molecular Aspects Associated with Defects in the Transcription Factor POU3F4: A Review |
| title_fullStr | Clinical and Molecular Aspects Associated with Defects in the Transcription Factor POU3F4: A Review |
| title_full_unstemmed | Clinical and Molecular Aspects Associated with Defects in the Transcription Factor POU3F4: A Review |
| title_short | Clinical and Molecular Aspects Associated with Defects in the Transcription Factor POU3F4: A Review |
| title_sort | clinical and molecular aspects associated with defects in the transcription factor pou3f4 a review |
| topic | POU3F4 X-linked deafness transcription factor hearing loss gene variants |
| url | https://www.mdpi.com/2227-9059/11/6/1695 |
| work_keys_str_mv | AT emanuelebernardinelli clinicalandmolecularaspectsassociatedwithdefectsinthetranscriptionfactorpou3f4areview AT florianhuber clinicalandmolecularaspectsassociatedwithdefectsinthetranscriptionfactorpou3f4areview AT sebastianroesch clinicalandmolecularaspectsassociatedwithdefectsinthetranscriptionfactorpou3f4areview AT silviadossena clinicalandmolecularaspectsassociatedwithdefectsinthetranscriptionfactorpou3f4areview |