Identification of the molecular basis of Menière's Disease in Brazilian cohort

Generated through a collaborative effort between the Laboratory of Human Molecular Genetics at CBMEG/UNICAMP and the Meniere's Disease Neuroscience Laboratory at the Kolling Institute, University of Sydney, the dataset includes three main components: (1) WES data from 22 patients analyzed using the Nextera Rapid Exome Enrichment Kit on the HiSeqTM 2500 platform, which identified variants of interest in 13 genes (OTOG, PCDH15, USH1G, ADGRV1, ESRRB, CDH23, AQP6, KCNH2, TNFRSF13B, SDHA, HRH4, ADD1, SLC25A35, HMX2) across 11 patients; (2) molecular screening results for the intergenic variant rs4947296, a trans-expression quantitative trait locus on chromosome 6 previously associated with bilateral MD and shown to regulate genes in the TWEAK/Fn14 pathway, potentially linking the disease to autoimmune response mechanisms; and (3) three-dimensional structural models of wild-type and mutated proteins corresponding to the identified genetic variants, generated using Modeller, Swiss-Model, and AlphaFold, with structural analysis performed in PyMOL and stability predictions via DynaMut2 to elucidate the potential structural impacts of these variants.