000078218 001__ 78218
000078218 005__ 20200716101529.0
000078218 0247_ $$2doi$$a10.3389/fgene.2019.00076
000078218 0248_ $$2sideral$$a110747
000078218 037__ $$aART-2019-110747
000078218 041__ $$aeng
000078218 100__ $$aGallego-Martinez, A.
000078218 245__ $$aExcess of Rare Missense Variants in Hearing Loss Genes in Sporadic Meniere Disease
000078218 260__ $$c2019
000078218 5060_ $$aAccess copy available to the general public$$fUnrestricted
000078218 5203_ $$aMeniere'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.
000078218 540__ $$9info:eu-repo/semantics/openAccess$$aby-nc-nd$$uhttp://creativecommons.org/licenses/by-nc-nd/3.0/es/
000078218 590__ $$a3.258$$b2019
000078218 591__ $$aGENETICS & HEREDITY$$b73 / 177 = 0.412$$c2019$$dQ2$$eT2
000078218 592__ $$a1.469$$b2019
000078218 593__ $$aMolecular Medicine$$c2019$$dQ1
000078218 593__ $$aGenetics$$c2019$$dQ2
000078218 593__ $$aGenetics (clinical)$$c2019$$dQ2
000078218 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000078218 700__ $$aRequena, T.
000078218 700__ $$aRoman-Naranjo, P.
000078218 700__ $$aLopez-Escamez, J.A.
000078218 700__ $$aAmor-Dorado, J.C.
000078218 700__ $$aAran, I.
000078218 700__ $$aBatuecas-Caletrio, A.
000078218 700__ $$aBenitez, J.
000078218 700__ $$0(orcid)0000-0002-6561-3305$$aFraile, J.$$uUniversidad de Zaragoza
000078218 700__ $$aGarcia-Arumi, A.
000078218 700__ $$aGonzalez-A, R.
000078218 700__ $$aEspinosa-Sanchez, J.M.
000078218 700__ $$aHuarte, R.M.
000078218 700__ $$aPerez-Fernandez, N.
000078218 700__ $$aMarques, P.
000078218 700__ $$aSanz, R.
000078218 700__ $$aDominguez, M.O.
000078218 700__ $$aTeggi, R.
000078218 7102_ $$11004$$2653$$aUniversidad de Zaragoza$$bDpto. Cirugía,Ginecol.Obstetr.$$cÁrea Otorrinolaringología
000078218 773__ $$g10 (2019), 76 [12 pp]$$pFront. genet.$$tFrontiers in Genetics$$x1664-8021
000078218 8564_ $$s204165$$uhttps://zaguan.unizar.es/record/78218/files/texto_completo.pdf$$yVersión publicada
000078218 8564_ $$s11361$$uhttps://zaguan.unizar.es/record/78218/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000078218 909CO $$ooai:zaguan.unizar.es:78218$$particulos$$pdriver
000078218 951__ $$a2020-07-16-09:32:47
000078218 980__ $$aARTICLE