Article

A rare haplotype of the<i>GJD3</i>gene segregating in familial Meniere Disease interferes with connexin assembly

2024-01-17

Abstract excerpt

Familial Meniere 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. Here, we found an enrichment of rare missense variants in the GJD3 gene when comparing allelic frequencies in FMD (N=94) with the Spanish reference population (OR=3.9[1.92-7.91], FDR=2.36E-03)...

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Literature Corpus work: 926557f1-af00-508e-8c66-bdbe9e0fad56
DOI: 10.1101/2024.01.16.24300842

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