Novel POU3F4 variants identified in patients with inner ear malformations exhibit aberrant cellular distribution and lack of SLC6A20 transcriptional upregulation

Novel POU3F4 variants identified in patients with inner ear malformations exhibit aberrant cellular distribution and lack of SLC6A20 transcriptional upregulation

Hearing loss (HL) is the most common sensory defect and affects 450 million people worldwide in a disabling form. Pathogenic sequence alterations in the POU3F4 gene, which encodes a transcription factor, are causative of the most common type of X-linked deafness (X-linked deafness type 3, DFN3, DFNX...

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Bibliographic Details
Main Authors: Emanuele Bernardinelli, Sebastian Roesch, Edi Simoni, Angela Marino, Gerd Rasp, Laura Astolfi, Antonio Sarikas, Silvia Dossena
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-09-01
Series:Frontiers in Molecular Neuroscience
Subjects:
POU3F4
DFNX2
DFN3
incomplete partition 3
hearing loss
enlarged vestibular aqueduct
Online Access:https://www.frontiersin.org/articles/10.3389/fnmol.2022.999833/full

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https://www.frontiersin.org/articles/10.3389/fnmol.2022.999833/full

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