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Article

An overload of missense variants in the OTOG gene may drive a higher prevalence of familial Meniere disease in the European population.

Human genetics - 1 Mar 2024

Parra-Perez Alberto M, Gallego-Martinez Alvaro, Lopez-Escamez Jose A

Abstract excerpt

Meniere disease is a complex inner ear disorder with significant familial aggregation. A differential prevalence of familial MD (FMD) has been reported, being 9-10% in Europeans compared to 6% in East Asians. A broad genetic heterogeneity in FMD has been described, OTOG being the most common mutated gene, with a compound heterozygous recessive inheritance. We hypothesize that an OTOG-related founder effect may...

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Identifiers

PMID: 38519595
DOI: 10.1007/s00439-024-02643-8
PMCID: PMC11043142

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