DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature.
ACTG1
DFNA20
DFNA26
NGS
gamma-actin
non-syndromic hearing loss
Journal
Audiology research
ISSN: 2039-4330
Titre abrégé: Audiol Res
Pays: Switzerland
ID NLM: 101644681
Informations de publication
Date de publication:
18 Oct 2021
18 Oct 2021
Historique:
received:
13
09
2021
revised:
10
10
2021
accepted:
13
10
2021
entrez:
26
10
2021
pubmed:
27
10
2021
medline:
27
10
2021
Statut:
epublish
Résumé
Since the early 2000s, an ever-increasing subset of missense pathogenic variants in the
Identifiants
pubmed: 34698053
pii: audiolres11040052
doi: 10.3390/audiolres11040052
pmc: PMC8544197
doi:
Types de publication
Case Reports
Langues
eng
Pagination
582-593Références
Sci Rep. 2020 Apr 27;10(1):7056
pubmed: 32341388
Eur J Hum Genet. 2014 Feb;22(2):179-83
pubmed: 23756437
J Genet Genomics. 2008 Sep;35(9):553-8
pubmed: 18804074
J Med Genet. 2005 Jul;42(7):588-94
pubmed: 15994881
Brain Dev. 2019 Oct;41(9):776-782
pubmed: 31171384
Hum Mutat. 2017 Aug;38(8):942-946
pubmed: 28493397
Genet Med. 2019 Feb;21(2):303-310
pubmed: 30008475
Ann Otol Rhinol Laryngol. 2009 May;118(5):382-90
pubmed: 19548389
Genet Med. 2018 Nov;20(11):1354-1364
pubmed: 29671837
Sci China Life Sci. 2018 Jun;61(6):729-732
pubmed: 29357087
Genet Med. 2014 Dec;16(12):945-53
pubmed: 24875298
Seizure. 2020 Aug;80:145-152
pubmed: 32570172
Nature. 1990 Sep 6;347(6288):37-44
pubmed: 2395459
Hear Res. 2012 Jun;288(1-2):89-99
pubmed: 22200607
Gene Rep. 2018 Jun;11:264-269
pubmed: 30599039
J Pediatr. 2019 Dec;215:192-198
pubmed: 31630891
J Pediatr Genet. 2017 Jun;6(2):107-110
pubmed: 28496999
BMC Genet. 2016 Feb 01;17:33
pubmed: 26832775
J Biol Chem. 2006 Jul 21;281(29):20129-39
pubmed: 16690605
BMC Genomics. 2013 Mar 18;14:191
pubmed: 23506231
Ann Otol Rhinol Laryngol. 2015 May;124 Suppl 1:84S-93S
pubmed: 25792668
Hum Mol Genet. 2009 Aug 15;18(16):3075-89
pubmed: 19477959
J Biol Chem. 2012 Aug 3;287(32):27217-26
pubmed: 22718764
Eur J Med Genet. 2015 Aug;58(8):416-8
pubmed: 26188271
Ear Hear. 2001 Aug;22(4):279-88
pubmed: 11527035
Am J Med Genet A. 2016 Oct;170(10):2644-51
pubmed: 27240540
Mol Med Rep. 2018 Jun;17(6):7611-7617
pubmed: 29620237
Genet Med. 2016 Jul;18(7):696-704
pubmed: 26633542
N Engl J Med. 2017 Jan 5;376(1):21-31
pubmed: 27959697
Orphanet J Rare Dis. 2013 Oct 28;8:172
pubmed: 24164807
PLoS One. 2013 Oct 09;8(10):e75793
pubmed: 24130743
PLoS One. 2013 Aug 13;8(8):e71381
pubmed: 23967202
Int J Mol Sci. 2020 May 10;21(9):
pubmed: 32397632
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
BMC Med Genomics. 2018 Jul 09;11(1):58
pubmed: 29986705
Front Genet. 2018 Dec 21;9:681
pubmed: 30622556
J Transl Med. 2014 Nov 12;12:311
pubmed: 25388789
Hum Genet. 2021 Dec;140(12):1665-1678
pubmed: 34448047
Sci Rep. 2017 Dec 1;7(1):16783
pubmed: 29196752
N Engl J Med. 2006 May 18;354(20):2151-64
pubmed: 16707752
J Med Genet. 2003 Dec;40(12):879-84
pubmed: 14684684
Front Physiol. 2019 May 24;10:623
pubmed: 31231230
Eur J Med Genet. 2020 May;63(5):103877
pubmed: 32028042
Biophys J. 2016 Jul 26;111(2):323-332
pubmed: 27463135
Hum Mutat. 2018 Nov;39(11):1593-1613
pubmed: 30311386
Ophthalmic Genet. 2017 Mar-Apr;38(2):152-156
pubmed: 27096712
Eur J Hum Genet. 2015 Mar;23(3):292-301
pubmed: 25052316
PLoS One. 2019 Jan 25;14(1):e0211261
pubmed: 30682115
Dev Cell. 2006 Sep;11(3):387-97
pubmed: 16950128
Brain Commun. 2020 Dec 26;3(1):fcaa221
pubmed: 33604570
Eur J Hum Genet. 2017 Feb;25(3):308-314
pubmed: 28000701
Clin Genet. 2003 Jan;63(1):39-45
pubmed: 12519370
Int Rev Cytol. 2001;202:35-98
pubmed: 11061563
Genomics. 2000 Jan 1;63(1):1-6
pubmed: 10662538
PLoS One. 2018 Aug 9;13(8):e0201041
pubmed: 30091983
PLoS Genet. 2010 Oct 14;6(10):e1001158
pubmed: 20976199
Eur J Hum Genet. 2006 Oct;14(10):1097-105
pubmed: 16773128
Acta Otolaryngol. 2017 Jul;137(7):730-742
pubmed: 28498079
Nat Genet. 2012 Feb 26;44(4):440-4, S1-2
pubmed: 22366783
Proc Natl Acad Sci U S A. 2009 Jun 16;106(24):9703-8
pubmed: 19497859
Am J Hum Genet. 2003 Nov;73(5):1082-91
pubmed: 13680526
J Biol Chem. 2009 Jul 3;284(27):18260-9
pubmed: 19419963
Hum Genet. 2017 Jun;136(6):679-691
pubmed: 28303347
Hum Genet. 2016 Apr;135(4):441-450
pubmed: 26969326
Orphanet J Rare Dis. 2012 Sep 03;7:60
pubmed: 22938506