{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T01:43:15Z","timestamp":1785807795000,"version":"3.56.0"},"reference-count":58,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2020,11,27]],"date-time":"2020-11-27T00:00:00Z","timestamp":1606435200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI17\/1644"],"award-info":[{"award-number":["PI17\/1644"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002924","name":"Federaci\u00f3n Espa\u00f1ola de Enfermedades Raras","doi-asserted-by":"publisher","award":["PI17\/1644"],"award-info":[{"award-number":["PI17\/1644"]}],"id":[{"id":"10.13039\/501100002924","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Consejer\u00eda de Salud, Junta de Andaluc\u00eda","award":["PE-0356-2018"],"award-info":[{"award-number":["PE-0356-2018"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>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\u2014the 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.<\/jats:p>","DOI":"10.3390\/genes11121414","type":"journal-article","created":{"date-parts":[[2020,11,27]],"date-time":"2020-11-27T09:16:49Z","timestamp":1606468609000},"page":"1414","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":29,"title":["Systematic Review of Sequencing Studies and Gene Expression Profiling in Familial Meniere Disease"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1027-8594","authenticated-orcid":false,"given":"Alba","family":"Escalera-Balsera","sequence":"first","affiliation":[{"name":"Otology &amp; Neurotology Group CTS 495, Department of Genomic Medicine, Centro Pfizer-Universidad de Granada-Junta de Andaluc\u00eda de Gen\u00f3mica e Investigaci\u00f3n Oncol\u00f3gica, 18016 Granada, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pablo","family":"Roman-Naranjo","sequence":"additional","affiliation":[{"name":"Otology &amp; Neurotology Group CTS 495, Department of Genomic Medicine, Centro Pfizer-Universidad de Granada-Junta de Andaluc\u00eda de Gen\u00f3mica e Investigaci\u00f3n Oncol\u00f3gica, 18016 Granada, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8583-1430","authenticated-orcid":false,"given":"Jose Antonio","family":"Lopez-Escamez","sequence":"additional","affiliation":[{"name":"Otology &amp; Neurotology Group CTS 495, Department of Genomic Medicine, Centro Pfizer-Universidad de Granada-Junta de Andaluc\u00eda de Gen\u00f3mica e Investigaci\u00f3n Oncol\u00f3gica, 18016 Granada, Spain"},{"name":"Department of Otolaryngology, Instituto de Investigaci\u00f3n Biosanitaria, ibs.GRANADA, Hospital Universitario Virgen de las Nieves, 18014 Granada, Spain"},{"name":"Department of Surgery, Division of Otolaryngology, Universidad de Granada, 18016 Granada, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,11,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1016\/j.stemcr.2014.11.001","article-title":"C-MYC Transcriptionally Amplifies SOX2 Target Genes to Regulate Self-Renewal in Multipotent Otic Progenitor Cells","volume":"4","author":"Kwan","year":"2015","journal-title":"Stem Cell Rep."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"10903","DOI":"10.1523\/JNEUROSCI.2358-11.2011","article-title":"Developmental profiling of spiral ganglion neurons reveals insights into auditory circuit assembly","volume":"31","author":"Lu","year":"2011","journal-title":"J. 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