Excess of Rare Missense Variants in Hearing Loss Genes in Sporadic Meniere Disease.

ABSTRACT: Meniere's disease (MD) is a clinical spectrum of rare disorders characterized by vertigo attacks, associated with sensorineural hearing loss (SNHL) and tinnitus involving low to medium frequencies. Although it shows familial aggregation with incomplete phenotypic forms and variable expressivity, most cases are considered sporadic. The aim of this study was to investigate the burden for rare variation in SNHL genes in patients with sporadic MD. We conducted a targeted-sequencing study including SNHL and familial MD genes in 890 MD patients to compare the frequency of rare variants in cases using three independent public datasets as controls. Patients with sporadic MD showed a significant enrichment of missense variants in SNHL genes that was not found in the controls. The list of genes incl

SUBMITTER: Gallego-Martinez A 

PROVIDER: S-EPMC6385525 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature