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A nonsynonymous mutation in the WFS1 gene in a Finnish family with age-related hearing impairment
Medical Research Center Oulu, Oulu University Hospital, University of Oulu, Oulu, Finland; Research Unit of Clinical Neuroscience, University of Oulu, Oulu, Finland; Department of Neurology, Oulu University Hospital, Oulu, Finland.
Medical Research Center Oulu, Oulu University Hospital, University of Oulu, Oulu, Finland; Department of Otorhinolaryngology and Head and Neck Surgery, Oulu University Hospital, Oulu, Finland; PEDEGO Research Unit, University of Oulu, Oulu, Finland.
Department of Otorhinolaryngology and Head and Neck Surgery, Oulu University Hospital, Oulu, Finland; Department of Clinical and Experimental Medicine/Technical Audiology, Faculty of Health Sciences, Linköping University, Linköping, Sweden; Department of ENT-Head Neck Surgery, Region Östergötland, Linköping, Sweden.
Medical Research Center Oulu, Oulu University Hospital, University of Oulu, Oulu, Finland; Department of Otorhinolaryngology and Head and Neck Surgery, Oulu University Hospital, Oulu, Finland; PEDEGO Research Unit, University of Oulu, Oulu, Finland.
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2017 (Engelska)Ingår i: Hearing Research, ISSN 0378-5955, E-ISSN 1878-5891, Vol. 355, s. 97-101Artikel i tidskrift (Refereegranskat) Published
Abstract [en]

Wolfram syndrome (WS) is caused by recessive mutations in the Wolfram syndrome 1 (WFS1) gene. Sensorineural hearing impairment (HI) is a frequent feature in WS and, furthermore, certain mutations in WFS1 cause nonsyndromic dominantly inherited low-frequency sensorineural HI. These two phenotypes are clinically distinct indicating that WFS1 is a reasonable candidate for genetic studies in patients with other phenotypes of HI. Here we have investigated, whether the variation in WFS1 has a pathogenic role in age-related hearing impairment (ARHI). WFS1 gene was investigated in a population sample of 518 Finnish adults born in 1938-1949 and representing variable hearing phenotypes. Identified variants were evaluated with respect to pathogenic potential. A rare mutation predicted to be pathogenic was found in a family with many members with impaired hearing. Twenty members were recruited to a segregation study and a detailed clinical examination. Heterozygous p.Tyr528His variant segregated completely with late-onset HI in which hearing deteriorated first at high frequencies and progressed to mid and low frequencies later in life. We report the first mutation in the WFS1 gene causing late-onset HI with audiogram configurations typical for ARHI. Monogenic forms of ARHI are rare and our results add WFS1 to the short list of such genes.

Ort, förlag, år, upplaga, sidor
Amsterdam, Netherlands: Elsevier, 2017. Vol. 355, s. 97-101
Nyckelord [en]
Age-related hearing impairment, High-frequency hearing impairment, Presbyacusis, Wolfram syndrome
Nationell ämneskategori
Medicin och hälsovetenskap Oto-rino-laryngologi
Identifikatorer
URN: urn:nbn:se:oru:diva-62799DOI: 10.1016/j.heares.2017.09.013ISI: 000415775600010PubMedID: 28974383Scopus ID: 2-s2.0-85030464934OAI: oai:DiVA.org:oru-62799DiVA, id: diva2:1159833
Tillgänglig från: 2017-11-23 Skapad: 2017-11-23 Senast uppdaterad: 2018-08-11Bibliografiskt granskad

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