Systematic Review of Sequencing Studies and Gene Expression Profiling in Familial Meniere Disease
Metadatos
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Mdpi
Materia
Meniere’s disease Exome sequencing Sensorineural hearing loss Vestibular disorders Single nucleotide variant Familial segregation Rare variant Mendelian disorders Inheritance pattern
Date
2020-11-27Referencia bibliográfica
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]
Patrocinador
Consejería de Salud y Familias PE-0356-2018Résumé
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.