A rare haplotype of the GJD3 gene segregating in familial Meniere’s disease interferes with connexin assembly

A rare haplotype of the GJD3 gene segregating in familial Meniere’s disease interferes with connexin assembly

Abstract Background Familial Meniere’s disease (FMD) is a rare polygenic disorder of the inner ear. Mutations in the connexin gene family, which encodes gap junction proteins, can also cause hearing loss, but their role in FMD is largely unknown. Methods We retrieved exome sequencing data from 94 in...

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Main Authors: Alba Escalera-Balsera, Paula Robles-Bolivar, Alberto M. Parra-Perez, Silvia Murillo-Cuesta, Han Chow Chua, Lourdes Rodríguez-de la Rosa, Julio Contreras, Ewa Domarecka, Juan Carlos Amor-Dorado, Andrés Soto-Varela, Isabel Varela-Nieto, Agnieszka J. Szczepek, Alvaro Gallego-Martinez, Jose A. Lopez-Escamez
Format: Article
Language:English
Published: BMC 2025-01-01
Series:Genome Medicine
Subjects:
Meniere’s disease
Hearing loss
Inner ear
Tectorial membrane
Exome sequencing
Bioinformatics
Online Access:https://doi.org/10.1186/s13073-024-01425-1
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