Show simple item record

dc.contributor.authorEscalera Balsera, Alba
dc.contributor.authorRomán Naranjo, Pablo
dc.contributor.authorLópez Escámez, José Antonio
dc.identifier.citationEscalera-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]es_ES
dc.description.abstractFamilial 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.es_ES
dc.description.sponsorshipConsejería de Salud y Familias PE-0356-2018es_ES
dc.rightsAtribución 3.0 España*
dc.subjectMeniere’s diseasees_ES
dc.subjectExome sequencinges_ES
dc.subjectSensorineural hearing losses_ES
dc.subjectVestibular disorderses_ES
dc.subjectSingle nucleotide variantes_ES
dc.subjectFamilial segregationes_ES
dc.subjectRare variantes_ES
dc.subjectMendelian disorderses_ES
dc.subjectInheritance patternes_ES
dc.titleSystematic Review of Sequencing Studies and Gene Expression Profiling in Familial Meniere Diseasees_ES

Files in this item


This item appears in the following Collection(s)

Show simple item record

Atribución 3.0 España
Except where otherwise noted, this item's license is described as Atribución 3.0 España