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Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran.

Clinical genetics - 1 Jul 2021

Mohseni Marzieh, Babanejad Mojgan, 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, Habibi Farkhonde, Behravan Hanieh, Mirzaei Sepide, Keshavarzi Fatemeh, Nikzat Nooshin, Mehrjoo Zohreh, Thiele Holger, Nothnagel Michael, Azaiez Hela, Smith Richard J, Kahrizi Kimia, Najmabadi Hossein

Abstract excerpt

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...

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Child, Preschool
Cohort Studies
Exome
Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

High-Throughput Nucleotide Sequencing

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PMID: 33713422
DOI: 10.1111/cge.13956
PMCID: PMC8195868

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