A novel frameshift variant in the TMPRSS3 gene causes nonsyndromic hearing loss in a consanguineous family

A novel frameshift variant in the TMPRSS3 gene causes nonsyndromic hearing loss in a consanguineous family

Abstract Background Hearing Loss (HL) is the most common sensorineural condition in humans. Mutations in the TMPRSS3 gene (DNFB8/10 locus) have been linked to autosomal recessive non-syndromic hearing loss (ARNSHL). Methods Whole-exome sequencing (WES) was utilized to identify disease-causing varian...

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Main Authors: Nahid Rezaie, Saeedeh Sadat Ghazanfari, Seyede Mahsa Mousavikia, Nader Mansour Samaei, Morteza Oladnabi, Abdolazim Sarli, Teymoor Khosravi
Format: Article
Language:English
Published: BMC 2024-11-01
Series:BMC Medical Genomics
Subjects:
TMPRSS3
Autosomal recessive non-syndromic hearing loss
Whole exome sequencing
Novel variant
Online Access:https://doi.org/10.1186/s12920-024-02055-7
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https://doi.org/10.1186/s12920-024-02055-7

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