Identification of Hearing Loss-Associated Variants of
Journal
BioMed research international
ISSN: 2314-6141
Titre abrégé: Biomed Res Int
Pays: United States
ID NLM: 101600173
Informations de publication
Date de publication:
2021
2021
Historique:
received:
17
02
2021
revised:
12
03
2021
accepted:
30
03
2021
entrez:
17
5
2021
pubmed:
18
5
2021
medline:
26
5
2021
Statut:
epublish
Résumé
The inner ear is an essential part of a well-developed and well-coordinated hearing system. However, hearing loss can make communication and interaction more difficult. Inherited hearing loss (HL) can occur from pathogenic genetic variants that negatively alter the intricate inner ear sensory mechanism. Recessively inherited forms of HL are highly heterogeneous and account for a majority of prelingual deafness. The current study is designed to investigate genetic causes of HL in three consanguineous Pakistani families. After IRB approval, the clinical history and pure tone audiometric data was obtained for the clinical diagnosis of HL segregating in these three Pakistani families. We performed whole exome sequencing (WES) followed by Sanger sequencing in order to identify and validate the HL-associated pathogenic variants, respectively. The 3-D molecular modeling and the Ramachandran analysis of the identified missense variants were compiled to evaluate the impact of the variants on the encoded proteins. Clinical evaluation revealed prelingual severe to profound sensorineural HL segregating among the affected individuals in all three families. Genetic analysis revealed segregation of several novel variants associated with HL, including a canonical splice-site variant (c.55-2A>G) of
Identifiants
pubmed: 33997018
doi: 10.1155/2021/5584788
pmc: PMC8080868
doi:
Substances chimiques
MYO15A protein, human
0
Serpins
0
serpin B6
0
PTPRQ protein, human
EC 3.1.3.48
Receptor-Like Protein Tyrosine Phosphatases, Class 3
EC 3.1.3.48
Myosins
EC 3.6.4.1
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
5584788Subventions
Organisme : NIDCD NIH HHS
ID : R01 DC011803
Pays : United States
Informations de copyright
Copyright © 2021 Umair Mahmood et al.
Déclaration de conflit d'intérêts
The writers announce no conflict of interest.
Références
Genes (Basel). 2019 Dec 10;10(12):
pubmed: 31835641
Neural Plast. 2018 Apr 19;2018:9425725
pubmed: 29849575
Am J Hum Genet. 2010 May 14;86(5):797-804
pubmed: 20451170
Am J Pathol. 2013 Jul;183(1):49-59
pubmed: 23669344
J Transl Med. 2019 Oct 26;17(1):351
pubmed: 31655630
Bioinformatics. 2010 Mar 1;26(5):589-95
pubmed: 20080505
Hum Mutat. 2016 Oct;37(10):991-1003
pubmed: 27375115
Laryngorhinootologie. 2018 Mar;97(S 01):S214-S230
pubmed: 29905358
Orphanet J Rare Dis. 2012 Jun 26;7:44
pubmed: 22734612
ORL J Otorhinolaryngol Relat Spec. 2006;68(2):57-63
pubmed: 16428895
J Otolaryngol. 1998 Dec;27(6):348-53
pubmed: 9857321
Aging Cell. 2016 Apr;15(2):301-8
pubmed: 26791792
Ann Hum Biol. 2017 Mar;44(2):99-107
pubmed: 27892699
JAMA. 2001 Feb 7;285(5):540-4
pubmed: 11176855
Mol Biol Rep. 2020 Dec;47(12):9987-9993
pubmed: 33231815
Genet Med. 2015 Nov;17(11):901-11
pubmed: 25719458
Am J Hum Genet. 2010 Apr 9;86(4):604-10
pubmed: 20346435
Hear Res. 2011 Nov;281(1-2):3-10
pubmed: 21664957
Nat Genet. 2011 May;43(5):491-8
pubmed: 21478889
J Laryngol Otol. 2014 Jan;128(1):13-21
pubmed: 24423691