Systematic Review of Sequencing Studies and Gene Expression Profiling in Familial Meniere Disease
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Meniere’s diseaseExome sequencingSensorineural hearing lossVestibular disordersSingle nucleotide variantFamilial segregationRare variantMendelian disordersInheritance pattern
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]
SponsorshipConsejería de Salud y Familias PE-0356-2018
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.