Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0042571 (vertigo)
 7,148 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Meniere's disease (MD) is a clinical spectrum of rare disorders characterized by vertigo attacks, associated with sensorineural hearing loss (SNHL) and tinnitus involving low to medium frequencies. Although it shows familial aggregation with incomplete phenotypic forms and variable expressivity, most cases are considered sporadic. The aim of this study was to investigate the burden for rare variation in SNHL genes in patients with sporadic MD. We conducted a targeted-sequencing study including SNHL and familial MD genes in 890 MD patients to compare the frequency of rare variants in cases using three independent public datasets as controls. Patients with sporadic MD showed a significant enrichment of missense variants in SNHL genes that was not found in the controls. The list of genes includes GJB2, USH1G, SLC26A4, ESRRB, and CLDN14. A rare synonymous variant with unknown significance was found in the MARVELD2 gene in several unrelated patients with MD. There is a burden of rare variation in certain SNHL genes in sporadic MD. Furthermore, the interaction of common and rare variants in SNHL genes may have an additive effect on MD phenotype. This study will contribute to design a gene panel for the genetic diagnosis of MD.
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PMID:Excess of Rare Missense Variants in Hearing Loss Genes in Sporadic Meniere Disease. 3082 46

Meniere's disease (MD) is a complex disorder of the inner ear that causes vertigo attacks, fluctuating sensorineural hearing loss (SNHL), tinnitus and aural fullness. MD has been attributed to an accumulation of endolymph in the cochlear duct. The diagnosis of MD is based on the phenomenological association of clinical symptoms and the demonstration of SNHL during the vertigo attacks. Several evidences support a genetic contribution to MD including differences in the prevalence according to the ethnic background and familial aggregation in European and Asian populations in multiplex families with autosomal dominant inheritance. The genetic underpinnings of MD may include some rare monogenic forms in isolated families and a polygenic contribution in most familial and sporadic cases. So, familial MD has been reported in 6-8% of sporadic cases and several genes have been described in single Familial MD including FAM136A, DTNA, PRKCB, SEMA3D and DPT, suggesting genetic heterogeneity. Multiplex rare missense variants in OTOG gene have been reported in 33% of familial MD, suggesting multiallelic inheritance. Moreover, the genetic landscape of sporadic MD is more complex and it involves multiplex rare variants in several SNHL genes such as GJB2, USH1G, SLC26A4, ESRRB, and CLDN14 and axonal-guidance signalling genes such as NTN4 and NOX3. This review summarizes evidence to support a genetic contribution in MD and the start of deciphering the genetic architecture to design and develop a molecular map of MD.
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PMID:Genetic architecture of Meniere's disease. 3187 21