The Cause of Hereditary Hearing Loss in <i>GJB2</i> Heterozygotes—A Comprehensive Study of the <i>GJB2</i>/DFNB1 Region

The Cause of Hereditary Hearing Loss in <i>GJB2</i> Heterozygotes—A Comprehensive Study of the <i>GJB2</i>/DFNB1 Region

Hearing loss is a genetically heterogeneous sensory defect, and the frequent causes are biallelic pathogenic variants in the <i>GJB2</i> gene. However, patients carrying only one heterozygous pathogenic (monoallelic) <i>GJB2</i> variant represent a long-lasting diagnostic pro...

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Bibliographic Details
Main Authors: Dana Safka Brozkova, Anna Uhrova Meszarosova, Petra Lassuthova, Lukáš Varga, David Staněk, Silvia Borecká, Jana Laštůvková, Vlasta Čejnová, Dagmar Rašková, Filip Lhota, Daniela Gašperíková, Pavel Seeman
Format: Article
Language:English
Published: MDPI AG 2021-05-01
Series:Genes
Subjects:
hearing loss
<i>GJB2</i> monoallelic variant
DFNB1 region
next generation sequencing
Online Access:https://www.mdpi.com/2073-4425/12/5/684

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https://www.mdpi.com/2073-4425/12/5/684

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