Considering gene therapy to protect from X-linked deafness DFNX2 and associated neurodevelopmental disorders.
DFNX2
POU3F4/Pou3f4
endocochlear potential
gene therapy
hearing loss
spiral ligament
Journal
Ibrain
ISSN: 2769-2795
Titre abrégé: Ibrain
Pays: United States
ID NLM: 9918680988706676
Informations de publication
Date de publication:
2022
2022
Historique:
received:
08
03
2022
revised:
10
08
2022
accepted:
13
09
2022
medline:
3
10
2023
pubmed:
3
10
2023
entrez:
3
10
2023
Statut:
epublish
Résumé
Mutations and deletions in the gene or upstream of the gene encoding the POU3F4 transcription factor cause X-linked progressive deafness DFNX2 and additional neurodevelopmental disorders in humans. Hearing loss can be purely sensorineural or mixed, that is, with both conductive and sensorineural components. Affected males show anatomical abnormalities of the inner ear, which are jointly defined as incomplete partition type III. Current approaches to improve hearing and speech skills of DFNX2 patients do not seem to be fully effective. Owing to inner ear malformations, cochlear implantation is surgically difficult and may predispose towards severe complications. Even in cases where implantation is safely performed, hearing and speech outcomes remain highly variable among patients. Mouse models for DFNX2 deafness revealed that sensorineural loss could arise from a dysfunction of spiral ligament fibrocytes in the lateral wall of the cochlea, which leads to reduced endocochlear potential. Highly positive endocochlear potential is critical for sensory hair cell mechanotransduction and hearing. In this context, here, we propose to develop a therapeutic approach in male
Identifiants
pubmed: 37786584
doi: 10.1002/ibra.12068
pii: IBRA12068
pmc: PMC10529175
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
431-441Informations de copyright
© 2022 The Authors. Ibrain published by Affiliated Hospital of Zunyi Medical University and Wiley‐VCH GmbH.
Déclaration de conflit d'intérêts
The author declares no conflict of interest.
Références
Genes Dev. 1997 May 15;11(10):1207-25
pubmed: 9171367
Ann Otol Rhinol Laryngol. 1997 Apr;106(4):320-5
pubmed: 9109724
Am J Med Genet A. 2007 Nov 1;143A(21):2564-75
pubmed: 17935254
Mol Genet Genomic Med. 2020 Apr;8(4):e1177
pubmed: 32048449
Hum Mutat. 1997;10(3):207-11
pubmed: 9298820
Proc Natl Acad Sci U S A. 2009 Jun 23;106(25):10171-6
pubmed: 19520826
Sci Rep. 2019 Feb 7;9(1):1604
pubmed: 30733538
J Comp Neurol. 2020 Aug;528(12):1967-1985
pubmed: 31994726
J Comput Assist Tomogr. 2020 May/Jun;44(3):386-388
pubmed: 32168082
Oman Med J. 2021 Jul 31;36(4):e286
pubmed: 34405054
Arch Otolaryngol Head Neck Surg. 2000 Sep;126(9):1065-9
pubmed: 10979118
Clin Genet. 2008 Jan;73(1):14-23
pubmed: 18005182
Adv Otorhinolaryngol. 2000;56:184-95
pubmed: 10868234
Int J Pediatr Otorhinolaryngol. 2014 Oct;78(10):1756-62
pubmed: 25175280
Laryngoscope. 1998 Oct;108(10):1544-7
pubmed: 9778298
Genesis. 2009 Mar;47(3):137-41
pubmed: 19217071
Dev Med Child Neurol. 2019 Dec;61(12):1377-1385
pubmed: 30977116
Biochem Biophys Res Commun. 2011 Jan 7;404(1):528-33
pubmed: 21144821
J Genet Genomics. 2010 Dec;37(12):787-93
pubmed: 21193157
Otol Neurotol. 2006 Aug;27(5):615-23
pubmed: 16788416
Neuron. 2012 Jan 12;73(1):49-63
pubmed: 22243746
Mol Ther. 2005 Oct;12(4):725-33
pubmed: 16169458
Otol Neurotol. 2015 Jan;36(1):184-90
pubmed: 24608376
Neuroradiology. 1991;33(4):326-30
pubmed: 1922747
Otol Neurotol. 2017 Jan;38(1):38-46
pubmed: 27779564
Epilepsy Behav. 2017 Aug;73:126-130
pubmed: 28636978
Int J Pediatr Otorhinolaryngol. 2015 Oct;79(10):1689-93
pubmed: 26250436
Int J Pediatr Otorhinolaryngol. 2020 Apr;131:109890
pubmed: 31972382
BMC Med Genet. 2018 Sep 4;19(1):157
pubmed: 30176854
Hum Mol Genet. 1996 Sep;5(9):1229-35
pubmed: 8872461
Biosci Rep. 2021 Jun 25;41(6):
pubmed: 33860785
Genes (Basel). 2021 Apr 21;12(5):
pubmed: 33919129
Eur Arch Otorhinolaryngol. 2013 Nov;270(12):3057-62
pubmed: 23400403
Ear Hear. 2021 Jun 15;43(1):53-69
pubmed: 34133399
Hear Res. 1998 Jun;120(1-2):77-85
pubmed: 9667433
Otolaryngol Head Neck Surg. 2021 Jan;164(1):19-26
pubmed: 32600118
Arch Otolaryngol. 1985 Apr;111(4):249-54
pubmed: 3977755
Hum Mol Genet. 2000 Jan 1;9(1):79-85
pubmed: 10587581
Laryngoscope. 2017 Jul;127(7):1663-1669
pubmed: 27577114
Front Cell Neurosci. 2019 Dec 06;13:532
pubmed: 31866825
J Am Acad Audiol. 1993 Nov;4(6):420-5
pubmed: 8298178
BMC Med Genet. 2015 Feb 25;16:9
pubmed: 25928534
Clin Otolaryngol. 2018 Oct;43(5):1379-1383
pubmed: 29788544
Otol Neurotol. 2011 Jun;32(4):690-4
pubmed: 21555964
J Neurosci. 1999 Jul 15;19(14):5980-9
pubmed: 10407036
Curr Genomics. 2018 Aug;19(5):327-338
pubmed: 30065609
HNO. 2020 Jan;68(Suppl 1):25-32
pubmed: 31598773
Birth Defects Orig Artic Ser. 1971 Mar;07(4):64-9
pubmed: 5173351
Ann Otol Rhinol Laryngol. 2016 Feb;125(2):173-6
pubmed: 26346280
J Clin Med. 2020 Jul 21;9(7):
pubmed: 32708116
Adv Otorhinolaryngol. 2002;61:161-7
pubmed: 12408080
Ann Otol Rhinol Laryngol. 2015 May;124 Suppl 1:169S-76S
pubmed: 25792666
Orphanet J Rare Dis. 2022 Feb 21;17(1):65
pubmed: 35189936
Int J Pediatr Otorhinolaryngol. 2018 Jan;104:94-97
pubmed: 29287890
Theranostics. 2019 Sep 23;9(24):7184-7199
pubmed: 31695761
PLoS One. 2010 Dec 31;5(12):e15907
pubmed: 21209840
Chin Med J (Engl). 2017 5th Jan 2017;130(1):88-92
pubmed: 28051029
Hum Mol Genet. 1995 Aug;4(8):1467-9
pubmed: 7581392
Int J Pediatr Otorhinolaryngol. 2016 Dec;91:121-123
pubmed: 27863625
AJNR Am J Neuroradiol. 2020 Jun;41(6):1076-1080
pubmed: 32467182
Laryngoscope. 2016 Mar;126(3):E123-8
pubmed: 26600195
Hear Res. 2002 Apr;166(1-2):150-8
pubmed: 12062767
Front Neurol. 2020 Oct 27;11:580639
pubmed: 33193034
Otol Neurotol. 2013 Apr;34(3):544-8
pubmed: 23470556
Vestn Otorinolaringol. 2020;85(4):65-69
pubmed: 32885640
Balkan Med J. 2017 Sep 29;34(5):397-411
pubmed: 28840850
Hum Genet. 1988 Dec;80(4):337-40
pubmed: 2904400
Science. 1995 Feb 3;267(5198):685-8
pubmed: 7839145
Hum Mutat. 2013 Feb;34(2):309-16
pubmed: 23076972
Nat Rev Dis Primers. 2017 Jan 12;3:16094
pubmed: 28079113
Am J Hum Genet. 1995 Jan;56(1):224-30
pubmed: 7825582
Hum Mol Genet. 1995 Nov;4(11):2145-50
pubmed: 8589693
J Hum Genet. 2011 Jul;56(7):534-40
pubmed: 21633365
J Otol. 2015 Jun;10(2):78-82
pubmed: 29937786
BMC Bioinformatics. 2009 Jun 29;10:202
pubmed: 19563654
Front Cell Neurosci. 2019 Jul 16;13:323
pubmed: 31379508
Hum Mutat. 2013 Aug;34(8):1102-10
pubmed: 23606368
Otol Neurotol. 2016 Feb;37(2):e126-34
pubmed: 26756145
Mol Ther Methods Clin Dev. 2021 Mar 10;21:209-236
pubmed: 33850952
Cold Spring Harb Perspect Med. 2019 Sep 3;9(9):
pubmed: 30323014
J Physiol. 2013 Sep 15;591(18):4459-72
pubmed: 23836687
Diagn Interv Radiol. 2022 Jan;28(1):50-57
pubmed: 34914607
Genet Test Mol Biomarkers. 2019 Jun;23(6):423-427
pubmed: 31063410
Am J Audiol. 2014 Mar;23(1):1-6
pubmed: 24096866
Clin Genet. 2010 Dec;78(6):524-32
pubmed: 20412083
J Neurosci. 2017 May 17;37(20):5144-5154
pubmed: 28438970
Laryngoscope. 2001 Jul;111(7):1156-65
pubmed: 11568535
Pediatr Radiol. 2020 Jan;50(1):142-145
pubmed: 31440883
BMC Med Genomics. 2022 Jan 21;15(1):12
pubmed: 35062939
Int J Pediatr Otorhinolaryngol. 1983 Nov;6(2):179-85
pubmed: 6662621
ORL J Otorhinolaryngol Relat Spec. 2022;84(1):47-54
pubmed: 34098563
Clin Genet. 2009 Dec;76(6):558-63
pubmed: 19930154
Neural Plast. 2021 Apr 22;2021:5528434
pubmed: 33976695
Neuroradiology. 2019 Aug;61(8):949-952
pubmed: 31177298
Arch Otolaryngol Head Neck Surg. 2005 Dec;131(12):1057-63
pubmed: 16365218
Hum Gene Ther. 2016 Sep;27(9):687-99
pubmed: 27342665
Neural Plast. 2020 Sep 1;2020:8829587
pubmed: 32952548
Physiol Genomics. 2009 Nov 6;39(3):195-201
pubmed: 19671658
AJNR Am J Neuroradiol. 2020 Jun;41(6):1087-1093
pubmed: 32409310
Chin Med J (Engl). 2019 Sep 20;132(18):2251-2253
pubmed: 31490266
Ann Otol Rhinol Laryngol. 2010 Dec;119(12):815-22
pubmed: 21250553
Eur Arch Otorhinolaryngol. 2008 Nov;265(11):1425-30
pubmed: 18305951
Science. 1999 Aug 27;285(5432):1408-11
pubmed: 10464101
Clin Genet. 2009 Jun;75(6):572-5
pubmed: 19438930
EMBO J. 1992 Jul;11(7):2551-61
pubmed: 1628619
J Assoc Res Otolaryngol. 2009 Jun;10(2):161-72
pubmed: 19212789
Auris Nasus Larynx. 2018 Feb;45(1):26-32
pubmed: 28318810
Am J Otol. 1994 Mar;15(2):177-82
pubmed: 8172298
Nat Commun. 2013;4:1438
pubmed: 23385583
Front Neurol. 2021 Oct 21;12:714543
pubmed: 34744965
Int J Pediatr Otorhinolaryngol. 2020 Feb;129:109790
pubmed: 31786483
J Comput Assist Tomogr. 2020 Sep/Oct;44(5):704-707
pubmed: 32842072
Hear Res. 2005 Jan;199(1-2):11-21
pubmed: 15574296
Laryngoscope. 2006 Jun;116(6):944-50
pubmed: 16735904
Otol Neurotol. 2014 Jan;35(1):191-2
pubmed: 24270728
PLoS One. 2016 Dec 12;11(12):e0166618
pubmed: 27941975
Hum Genet. 2010 Oct;128(4):411-9
pubmed: 20668882