Mohseni, Marzieh, Babanejad, Mojgan ORCID: 0000-0003-2532-4303, Booth, Kevin T., Jamali, Payman, Jalalvand, Khadijeh, Davarnia, Behzad, Ardalani, Fariba, Khoshaeen, Atefeh, Arzhangi, Sanaz, Ghodratpour, Fatemeh, Beheshtian, Maryam, Jahanshad, Faezeh, Otukesh, Hasan, Bahrami, Fatemeh, Seifati, Seyed Morteza, Bazazzadegan, Niloofar ORCID: 0000-0002-5455-272X, Habibi, Farkhonde, Behravan, Hanieh, Mirzaei, Sepide, Keshavarzi, Fatemeh, Nikzat, Nooshin, Mehrjoo, Zohreh, Thiele, Holger, Nothnagel, Michael, Azaiez, Hela ORCID: 0000-0002-2863-6970, Smith, Richard J., Kahrizi, Kimia and Najmabadi, Hossein (2021). Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran. Clin. Genet., 100 (1). S. 59 - 79. HOBOKEN: WILEY. ISSN 1399-0004

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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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Mohseni, MarziehUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Babanejad, MojganUNSPECIFIEDorcid.org/0000-0003-2532-4303UNSPECIFIED
Booth, Kevin T.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jamali, PaymanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jalalvand, KhadijehUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Davarnia, BehzadUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ardalani, FaribaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Khoshaeen, AtefehUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Arzhangi, SanazUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ghodratpour, FatemehUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Beheshtian, MaryamUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jahanshad, FaezehUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Otukesh, HasanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bahrami, FatemehUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Seifati, Seyed MortezaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bazazzadegan, NiloofarUNSPECIFIEDorcid.org/0000-0002-5455-272XUNSPECIFIED
Habibi, FarkhondeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Behravan, HaniehUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mirzaei, SepideUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Keshavarzi, FatemehUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nikzat, NooshinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mehrjoo, ZohrehUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Thiele, HolgerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nothnagel, MichaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Azaiez, HelaUNSPECIFIEDorcid.org/0000-0002-2863-6970UNSPECIFIED
Smith, Richard J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kahrizi, KimiaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Najmabadi, HosseinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-600219
DOI: 10.1111/cge.13956
Journal or Publication Title: Clin. Genet.
Volume: 100
Number: 1
Page Range: S. 59 - 79
Date: 2021
Publisher: WILEY
Place of Publication: HOBOKEN
ISSN: 1399-0004
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
Genetics & HeredityMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/60021

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