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 (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 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.
Highlights
The human inner ear is formed by six sensory organs: the spiral organ of Corti, located in the anterior part of the temporal bone, and the vestibular organs that consist of the utricle, the saccule, and the three semicircular canals that form the posterior labyrinth
Meniere Disease (MD) is an inner ear disorder that is characterized by episodic vertigo and associated with sensorineural hearing loss (SNHL), tinnitus and/or aural fullness
With the objective objective of of knowing knowing which which of of the the rare rare variants variants or or genes genes related related to to Familial Meniere Disease (FMD), FMD, we we obtained obtained from PubMed
Summary
The human inner ear is formed by six sensory organs: the spiral organ of Corti, located in the anterior part of the temporal bone, and the vestibular organs that consist of the utricle, the saccule, and the three semicircular canals that form the posterior labyrinth. These organs share a highly specialized tissue, the neurosensory epithelium, which contains the auditory and vestibular hair cells (HCs). Meniere Disease (MD) is an inner ear disorder that is characterized by episodic vertigo and associated with sensorineural hearing loss (SNHL), tinnitus and/or aural fullness. MD and vestibular migraine, whose clinical features could overlap, are the most common causes of spontaneous recurrent vertigo [4]
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