CORE
🇺🇦
make metadata, not war
Services
Services overview
Explore all CORE services
Access to raw data
API
Dataset
FastSync
Content discovery
Recommender
Discovery
OAI identifiers
OAI Resolver
Managing content
Dashboard
Bespoke contracts
Consultancy services
Support us
Support us
Membership
Sponsorship
Community governance
Advisory Board
Board of supporters
Research network
About
About us
Our mission
Team
Blog
FAQs
Contact us
Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran
Authors
F. Ardalani
S. Arzhangi
+26 more
H. Azaiez
M. Babanejad
F. Bahrami
N. Bazazzadegan
M. Beheshtian
H. Behravan
K.T. Booth
B. Davarnia
F. Ghodratpour
F. Habibi
F. Jahanshad
K. Jalalvand
P. Jamali
K. Kahrizi
F. Keshavarzi
A. Khoshaeen
Z. Mehrjoo
S. Mirzaei
M. Mohseni
H. Najmabadi
N. Nikzat
M. Nothnagel
H. Otukesh
S.M. Seifati
R.J. Smith
H. Thiele
Publication date
1 January 2021
Publisher
Abstract
Hearing loss (HL) is one of the most common sensory defects affecting more than 466 million individuals worldwide. It is clinically and genetically heterogeneous with over 120 genes causing non-syndromic HL identified to date. Here, we performed exome sequencing (ES) on a cohort of Iranian families with no disease-causing variants in known deafness-associated genes after screening with a targeted gene panel. We identified likely causal variants in 20 out of 71 families screened. Fifteen families segregated variants in known deafness-associated genes. Eight families segregated variants in novel candidate genes for HL: DBH, TOP3A, COX18, USP31, TCF19, SCP2, TENM1, and CARMIL1. In the three of these families, intrafamilial locus heterogeneity was observed with variants in both known and novel candidate genes. In aggregate, we were able to identify the underlying genetic cause of HL in nearly 30 of our study cohort using ES. This study corroborates the observation that high-throughput DNA sequencing in populations with high rates of consanguineous marriages represents a more appropriate strategy to elucidate the genetic etiology of heterogeneous conditions such as HL. © 2021 John Wiley & Sons A/S. Published by John Wiley & Sons Lt
Similar works
Full text
Open in the Core reader
Download PDF
Available Versions
eprints Iran University of Medical Sciences
See this paper in CORE
Go to the repository landing page
Download from data provider
oai:eprints.iums.ac.ir:39173
Last time updated on 17/12/2021