Delineation of Homozygous Variants Associated with Prelingual Sensorineural Hearing Loss in Pakistani Families.
Adolescent
Adult
Aged
Child
Deafness
/ genetics
Family
Female
Genetic Predisposition to Disease
Genetic Testing
Genetic Variation
/ genetics
Hearing Loss
/ genetics
Hearing Loss, Sensorineural
/ genetics
Homozygote
Humans
Male
Membrane Proteins
/ genetics
Middle Aged
Neoplasm Proteins
/ genetics
Pakistan
/ epidemiology
Pedigree
Receptors, Estrogen
/ genetics
Serine Endopeptidases
/ genetics
Exome Sequencing
/ methods
genetic heterogeneity
genetic testing
intra-familial heterogeneity
prelingual hearing loss
whole-exome sequencing
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
10 12 2019
10 12 2019
Historique:
received:
06
11
2019
revised:
26
11
2019
accepted:
03
12
2019
entrez:
15
12
2019
pubmed:
15
12
2019
medline:
2
6
2020
Statut:
epublish
Résumé
Hearing loss is a genetically heterogeneous disorder affecting approximately 360 million people worldwide and is among the most common sensorineural disorders. Here, we report a genetic analysis of seven large consanguineous families segregating prelingual sensorineural hearing loss. Whole-exome sequencing (WES) revealed seven different pathogenic variants segregating with hearing loss in these families, three novel variants (c.1204G>A, c.322G>T, and c.5587C>T) in
Identifiants
pubmed: 31835641
pii: genes10121031
doi: 10.3390/genes10121031
pmc: PMC6947215
pii:
doi:
Substances chimiques
ESRRB protein, human
0
Membrane Proteins
0
Neoplasm Proteins
0
OTOF protein, human
0
Receptors, Estrogen
0
Serine Endopeptidases
EC 3.4.21.-
TMPRSS3 protein, human
EC 3.4.21.-
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : NIDCD NIH HHS
ID : R01 DC011803
Pays : United States
Organisme : NIDCD NIH HHS
ID : R56DC011803
Pays : United States
Organisme : NIDCD NIH HHS
ID : R01DC016295
Pays : United States
Déclaration de conflit d'intérêts
The authors declare no conflict of interest. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript, or in the decision to publish the results.
Références
Nat Genet. 2001 Jan;27(1):59-63
pubmed: 11137999
Bioinformatics. 2009 Jul 15;25(14):1754-60
pubmed: 19451168
Ann N Y Acad Sci. 1991;630:16-31
pubmed: 1952587
Nat Genet. 2008 Nov;40(11):1335-40
pubmed: 18953341
Hear Res. 2011 Nov;281(1-2):3-10
pubmed: 21664957
Orphanet J Rare Dis. 2012 Jun 26;7:44
pubmed: 22734612
Hum Mutat. 2006 Jul;27(7):633-9
pubmed: 16752389
Nat Neurosci. 2009 Jun;12(6):703-10
pubmed: 19471269
J Basic Clin Physiol Pharmacol. 2012 Sep 07;23(3):93-7
pubmed: 22962211
Hum Mutat. 2019 Jan;40(1):53-72
pubmed: 30303587
Proc Natl Acad Sci U S A. 2008 Sep 23;105(38):14609-14
pubmed: 18794526
Nat Genet. 1997 Nov;17(3):267-8
pubmed: 9354783
J Med Genet. 2006 Aug;43(8):634-40
pubmed: 16459341
Am J Hum Genet. 2008 Jan;82(1):125-38
pubmed: 18179891
Nat Cell Biol. 2005 Feb;7(2):148-56
pubmed: 15654330
Eur J Hum Genet. 2015 Sep;23(9):1207-15
pubmed: 25491636
Mol Psychiatry. 2017 Nov;22(11):1604-1614
pubmed: 27457812
Cold Spring Harb Perspect Med. 2019 Sep 3;9(9):null
pubmed: 30249598
Hum Mol Genet. 1997 Nov;6(12):2179-85
pubmed: 9328483
Nat Genet. 2011 May;43(5):491-8
pubmed: 21478889
PLoS One. 2014 Jun 13;9(6):e99797
pubmed: 24926664
Laryngoscope. 2009 Apr;119(4):727-33
pubmed: 19274735
N Engl J Med. 2006 May 18;354(20):2151-64
pubmed: 16707752
Hum Mutat. 2018 Nov;39(11):1593-1613
pubmed: 30311386
Nat Genet. 1999 Apr;21(4):363-9
pubmed: 10192385
Science. 1998 May 29;280(5368):1447-51
pubmed: 9603736