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11 27, 2020;11 (12):

Systematic Review of Sequencing Studies and Gene Expression Profiling in Familial Meniere Disease.

Alba Escalera-Balsera, Pablo Roman-Naranjo, Jose Antonio Lopez-Escamez
Author Information
  1. Alba Escalera-Balsera: Otology & Neurotology Group CTS 495, Department of Genomic Medicine, Centro Pfizer-Universidad de Granada-Junta de Andalucía de Genómica e Investigación Oncológica, 18016 Granada, Spain. ORCID
  2. Pablo Roman-Naranjo: Otology & Neurotology Group CTS 495, Department of Genomic Medicine, Centro Pfizer-Universidad de Granada-Junta de Andalucía de Genómica e Investigación Oncológica, 18016 Granada, Spain.
  3. Jose Antonio Lopez-Escamez: Otology & Neurotology Group CTS 495, Department of Genomic Medicine, Centro Pfizer-Universidad de Granada-Junta de Andalucía de Genómica e Investigación Oncológica, 18016 Granada, Spain. ORCID
PMID: 33260921 DOI: 10.3390/genes11121414

Abstract

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 (, , , , , , , , , and ), most of them in singular families-the exception being the 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 different 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.

Keywords

Mendelian disorders Meniere’s disease exome sequencing familial segregation inheritance pattern rare variant sensorineural hearing loss single nucleotide variant vestibular disorders

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MeSH Term

Alleles
Causality
DNA Mutational Analysis
Family Health
Female
Gene Expression Profiling
Gene Frequency
Genes, Dominant
Genes, Recessive
Genetic Association Studies
Genetic Heterogeneity
Hearing Loss, Sensorineural
Humans
Male
Meniere Disease
Polymorphism, Single Nucleotide
Exome Sequencing
Journal Article Research Support, Non-U.S. Gov't Systematic Review

Word Cloud

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