Juan Carlos Amor‐Dorado

The paper reports rare missense OTOG variants in a Brazilian MD patient, suggesting their potential role in MD pathophysiology through structural destabilization of Otogelin.

The paper identifies a rare GJD3 haplotype associated with familial Meniere Disease, showing it disrupts connexin assembly and affects inner ear function.

The paper identifies rare variants in the OTOG gene as a frequent cause of familial Meniere’s disease through exome sequencing and variant analysis.