title: Vestibular function and temporal bone imaging in DFNB1.
abstract: DFNB1 is the most prevalent type of hereditary hearing impairment known nowadays and the audiometric phenotype is very heterogeneous. There is, however, no consensus in literature on vestibular and imaging characteristics. Vestibular function and imaging results of 44 DFNB1 patients were evaluated in this retrospective study. All patients displayed a response during rotational velocity step testing. In 65% of the cases, the caloric results were within normal range bilaterally. The video head impulse test was normal in all patients. In 34.4% of the CT scans one or more temporal bone anomalies were found. The various anomalies found, were present in small numbers and none seemed convincingly linked to a specific DFNB1genotype. The group of DFNB1 patients presented here is the largest thus far evaluated for their vestibular function. From this study, it can be assumed that DFNB1 is not associated with vestibular dysfunction or specific temporal bone anomalies.
authors.affiliation: Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands; Radboud Institute for Health Sciences, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands. Electronic address: Anne.Oonk@radboudumc.nl.
authors.forename: A M M
authors.initials: AM
authors.lastname: Oonk
authors.affiliation: Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands; Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
authors.forename: A J
authors.initials: AJ
authors.lastname: Beynon
authors.affiliation: Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands; Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
authors.forename: T A
authors.initials: TA
authors.lastname: Peters
authors.affiliation: Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands; Radboud Institute for Health Sciences, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
authors.forename: H P M
authors.initials: HP
authors.lastname: Kunst
authors.affiliation: Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands; Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
authors.forename: R J C
authors.initials: RJ
authors.lastname: Admiraal
authors.affiliation: Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands; Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands; Department of Human Genetics, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
authors.forename: H
authors.initials: H
authors.lastname: Kremer
authors.affiliation: Department of Radiology, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands; Leiden University Medical Center, PO Box 9600, 2300 RC, Leiden, The Netherlands.
authors.forename: B
authors.initials: B
authors.lastname: Verbist
authors.affiliation: Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands; Radboud Institute for Health Sciences, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
authors.forename: R J E
authors.initials: RJ
authors.lastname: Pennings
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D000072259:Connexin 26; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics; D004584:Electronystagmography; D005133:Eye Movements; D005260:Female; D020022:Genetic Predisposition to Disease; D019416:Head Movements; D006319:Hearing Loss, Sensorineural / Q000000981:diagnostic imaging* / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009760:Nystagmus, Physiologic; D010641:Phenotype; D012189:Retrospective Studies; D013701:Temporal Bone / Q000000981:diagnostic imaging*; D014057:Tomography, X-Ray Computed; D014722:Vestibule, Labyrinth / Q000503:physiopathology*; D055815:Young Adult
chemical_list: D000075302:Connexin 30; D017630:Connexins; C000607042:GJB2 protein, human; C491020:GJB6 protein, human; D000072259:Connexin 26
keywords: DFNB1; Temporal bone imaging; Vestibular function