Enrichment of damaging missense variants in genes related with axonal guidance signalling in sporadic Meniere’s disease

Meniere’s disease (MD) is a rare inner ear disorder with a significant genetic contribution defined by episodic vertigo, sensorineural hearing loss and tinnitus. We performed high-coverage targeted sequencing panel of 263 genes related with the main molecular pathways associated to supporting cells in the inner ear in a large Spanish sporadic MD cohort. We found a significant burden of damaging missense variants in some key genes of the axonal guidance signalling pathway, including Netrin 4 (NTN4). These results suggest axonal guidance signalling pathway could contribute to the genetic architecture of sporadic MD. (By Dr. Alvaro Gallego-Martinez, https://jmg.bmj.com/content/early/2019/09/07/jmedgenet-2019-106159 )

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