Systematic Review of Sequencing Studies and Gene Expression Profiling in Familial Meniere Disease Escalera Balsera, Alba Román Naranjo, Pablo López Escámez, José Antonio Meniere’s disease Exome sequencing Sensorineural hearing loss Vestibular disorders Single nucleotide variant Familial segregation Rare variant Mendelian disorders Inheritance pattern Familial Meniere Disease (FMD) is a rare inner ear disorder characterized by episodic vertigo associated with sensorineural hearing loss, tinnitus and/or aural fullness. We conducted a systematic review to find sequencing studies segregating rare variants in FMD to obtain evidence to support candidate genes for MD. After evaluating the quality of the retrieved records, eight studies were selected to carry out a quantitative synthesis. These articles described 20 single nucleotide variants (SNVs) in 11 genes (FAM136A, DTNA, PRKCB, COCH, DPT, SEMA3D, STRC, HMX2, TMEM55B, OTOG and LSAMP), most of them in singular families—the exception being the OTOG gene. Furthermore, we analyzed the pathogenicity of each SNV and compared its allelic frequency with reference datasets to evaluate its role in the pathogenesis of FMD. By retrieving gene expression data in these genes from di erent databases, we could classify them according to their gene expression in neural or inner ear tissues. Finally, we evaluated the pattern of inheritance to conclude which genes show an autosomal dominant (AD) or autosomal recessive (AR) inheritance in FMD. 2021-02-09T11:17:12Z 2021-02-09T11:17:12Z 2020-11-27 info:eu-repo/semantics/article Escalera-Balsera, A., Roman-Naranjo, P., & Lopez-Escamez, J. A. (2020). Systematic Review of Sequencing Studies and Gene Expression Profiling in Familial Meniere Disease. Genes, 11(12), 1414. [doi:10.3390/genes11121414] http://hdl.handle.net/10481/66404 10.3390/genes11121414 eng http://creativecommons.org/licenses/by/3.0/es/ info:eu-repo/semantics/openAccess Atribución 3.0 España Mdpi