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Article

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

Genome medicine - 15 Jan 2025

Escalera-Balsera Alba, Robles-Bolivar Paula, Parra-Perez Alberto M, Murillo-Cuesta Silvia, Chua Han Chow, Rodríguez-de la Rosa Lourdes, Contreras Julio, Domarecka Ewa, Amor-Dorado Juan Carlos, Soto-Varela Andrés, Varela-Nieto Isabel, Szczepek Agnieszka J, Gallego-Martinez Alvaro, Lopez-Escamez Jose A

Abstract excerpt

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 individuals in 70 Meniere's disease (MD) families. Through gene burden analysis, we calculated the enrichment of rare...

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Identifiers

PMID: 39815343
DOI: 10.1186/s13073-024-01425-1
PMCID: PMC11737067

Genes

GJD3

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