{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T17:07:29Z","timestamp":1787504849549,"version":"build-2736575974"},"reference-count":38,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2019,5,20]],"date-time":"2019-05-20T00:00:00Z","timestamp":1558310400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100006196","name":"Oulun Yliopisto","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004756","name":"Emil Aaltosen S\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004756","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2019,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    The genetic background of M\u00e9ni\u00e8re's disease (MD) was studied in one patient with childhood\u2010onset MD and his grandfather affected with middle age\u2013onset MD. Whole\u2010exome sequencing was performed and the data were compared to 76 exomes from unrelated subjects without MD. Thirteen rare inner ear expressed variants with pathogenic estimations were observed in the case of childhood\u2010onset MD. These variants were in genes involved in the formation of cell membranes or the cytoskeleton and in genes participating in cell death or gene\u2010regulation pathways. His grandfather shared two of the variants: p.Y273N in\n                    <jats:italic>HMX2<\/jats:italic>\n                    and p.L229F in\n                    <jats:italic>TMEM55B<\/jats:italic>\n                    .\n                    <jats:italic>HMX2<\/jats:italic>\n                    p.Y273N was considered the more likely candidate for MD, as the gene is known to affect both hearing and vestibular function. The variant in the\n                    <jats:italic>HMX2<\/jats:italic>\n                    gene may affect inner ear development and structural integrity and thus might predispose to the onset of MD. As there was a significant difference in onset between the patients, an accumulation of defects in several pathways is probably responsible for the exceptionally early onset of the disease, and the genetic etiology of childhood\u2010onset MD is most likely multifactorial. This is the first molecular genetic study of childhood\u2010onset MD.\n                  <\/jats:p>","DOI":"10.1111\/ahg.12327","type":"journal-article","created":{"date-parts":[[2019,5,20]],"date-time":"2019-05-20T05:05:58Z","timestamp":1558328758000},"page":"389-396","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Whole\u2010exome sequencing suggests multiallelic inheritance for childhood\u2010onset M\u00e9ni\u00e8re's disease"],"prefix":"10.1111","volume":"83","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2336-4221","authenticated-orcid":false,"given":"Sini","family":"Skarp","sequence":"first","affiliation":[{"name":"Faculty of Biochemistry and Molecular Medicine University of Oulu  Oulu Finland"},{"name":"Center for Life Course Health Research Faculty of Medicine, University of Oulu  Oulu 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