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  • 1.
    Carlsson, Per-Inge
    et al.
    Örebro universitet, Institutionen för vårdvetenskap och omsorg.
    Van Lear, Lut
    Borg, Erik
    Bondeson, Marie-Louise
    Thys, Melissa
    Fransen, Erik
    Van Camp, Guy
    The influence of genetic variation in oxidative stress genes on human noise susceptibility2005Ingår i: Hearing Research, ISSN 0378-5955, E-ISSN 1878-5891, Vol. 202, nr 1-2, s. 87-96Artikel i tidskrift (Refereegranskat)
  • 2.
    Hartel, Bas P.
    et al.
    Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands; Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.
    Löfgren, Maria
    Swedish Institute for Disability Research (SIDR), Linköping Uiniversity, Linköping, Sweden; Audiological Research Centre, Örebro University Hospital, Örebro, Sweden; School of Medicine and Health, Örebro University, Örebro, Sweden.
    Huygen, Patrick L. M.
    Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands; Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.
    Guchelaar, Iris
    Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands; Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.
    Lo-A-Njoe Kort, Nicole
    Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands; Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.
    Sadeghi, Andre M.
    The Sahlgrenska Academy, Institute of Neuroscience and Physiology, Department of Audiology, Göteborg, Sweden; Hearing and deafness activities organization, Habilitation & Health, Göteborg, Sweden.
    van Wijk, Erwin
    Department of Otorhinolaryngology, Head, and Neck Surgery, Radboud University Medical Center, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.
    Tranebjærg, Lisbeth
    Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark; Department of Otorhinolaryngology, Head and Neck Surgery and Audiology, Bispebjerg Hospital/Rigshospitalet, Copenhagen, Denmark.
    Kremer, Hannie
    Department of Otorhinolaryngology, Head, and Neck Surgery, Radboud University Medical Center, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
    Kimberling, William J.
    Department of Otolaryngology, Molecular Otolaryngology, and Renal Research Laboratories, University of Iowa, Iowa City IA, United States of America.
    Cremers, Cor W. R. J.
    Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands; Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.
    Möller, Claes
    Örebro universitet, Institutionen för hälsovetenskaper. Swedish Institute for Disability Research (SIDR), Linköping, Sweden; Audiological Research Centre, Örebro University Hospital, Örebro, Sweden; Department of Otolaryngology, Molecular Otolaryngology, and Renal Research Laboratories, University of Iowa, Iowa City IA, USA .
    Pennings, Ronald J. E.
    Department of Otorhinolaryngology, Donders Institute for Brain, Cognition and Behaviour, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Otolaryngology, Molecular Otolaryngology, and Renal Research Laboratories, University of Iowa, Iowa City IA, USA.
    A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa2016Ingår i: Hearing Research, ISSN 0378-5955, E-ISSN 1878-5891, Vol. 339, s. 60-68Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Objectives: Usher syndrome is an inherited disorder that is characterized by hearing impairment (HI), retinitis pigmentosa, and in some cases vestibular dysfunction. Usher syndrome type IIa is caused by mutations in USH2A. HI in these patients is highly heterogeneous and the present study evaluates the effects of different types of USH2A mutations on the audiometric phenotype. Data from two large centres of expertise on Usher Syndrome in the Netherlands and Sweden were combined in order to create a large combined sample of patients to identify possible genotype-phenotype correlations.

    Design: A retrospective study on HI in 110 patients (65 Dutch and 45 Swedish) genetically diagnosed with Usher syndrome type IIa. We used methods especially designed for characterizing and testing differences in audiological phenotype between patient subgroups. These methods included Age Related Typical Audiograms (ARTA) and a method to evaluate the difference in the degree of HI developed throughout life between subgroups.

    Results: Cross-sectional linear regression analysis of last-visit audiograms for the best hearing ear demonstrated a gradual decline of hearing over decades. The congenital level of HI was in the range of 16-33 dB at 0.25-0.5 kHz, and in the range of 51-60 dB at 1-8 kHz. The annual threshold deterioration was in the range of 0.4-0.5 dB/year at 0.25-2 kHz and in the range of 0.7-0.8 dB/year at 4-8 kHz. Patients with two truncating mutations, including homozygotes for the common c.2299delG mutation, developed significantly more severe HI throughout life than patients with one truncating mutation combined with one nontruncating mutation, and patients with two nontruncating mutations.

    Conclusions: The results have direct implications for patient counselling in terms of prognosis of hearing and may serve as baseline measures for future (genetic) therapeutic interventions.

  • 3.
    Kytövuori, Laura
    et al.
    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.
    Hannula, Samuli
    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.
    Mäki-Torkko, Elina
    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.
    Sorri, Martti
    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.
    Majamaa, Kari
    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.
    A nonsynonymous mutation in the WFS1 gene in a Finnish family with age-related hearing impairment2017Ingår i: Hearing Research, ISSN 0378-5955, E-ISSN 1878-5891, Vol. 355, s. 97-101Artikel i tidskrift (Refereegranskat)
    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.

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