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  • Hartel, Bas P.Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands; Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, the Netherlands (author)

A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa

  • Article/chapterEnglish2016

Publisher, publication year, extent ...

  • Amsterdam, Netherlands :Elsevier,2016
  • printrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:oru-50977
  • https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-50977URI
  • https://doi.org/10.1016/j.heares.2016.06.008DOI
  • https://gup.ub.gu.se/publication/243514URI

Supplementary language notes

  • Language:English
  • Summary in:English

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  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • Funding Agencies:Innovatiefonds B13-200-2677Fonds Nuts-Ohra 1303-009Heinsius Houbolt FondsNetherlands Organisation for Health Research and Development (ZonMW Klinisch Fellowship) 90700388Foundation Fighting Blindness C-CMM-0811-0547-RAD03Netherlands Organisation for Scientific Research Veni-016.136.091Netherlands Organisation for Health Research and Development (ZonMW E-rare grant) 40-42900-98-1006
  • 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.

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  • Löfgren, MariaSwedish 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 (author)
  • 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 (author)
  • Guchelaar, IrisDepartment of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands; Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, the Netherlands (author)
  • Lo-A-Njoe Kort, NicoleDepartment of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands; Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, the Netherlands (author)
  • Sadeghi, André M.Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi,Institute of Neuroscience and Physiology(Swepub:gu)xsadam (author)
  • van Wijk, ErwinDepartment of Otorhinolaryngology, Head, and Neck Surgery, Radboud University Medical Center, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands (author)
  • Tranebjærg, LisbethDepartment of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark; Department of Otorhinolaryngology, Head and Neck Surgery and Audiology, Bispebjerg Hospital/Rigshospitalet, Copenhagen, Denmark (author)
  • Kremer, HannieDepartment 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 (author)
  • Kimberling, William J.Department of Otolaryngology, Molecular Otolaryngology, and Renal Research Laboratories, University of Iowa, Iowa City IA, United States of America (author)
  • 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 (author)
  • Möller, Claes,1950-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(Swepub:oru)cmr (author)
  • 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 (author)
  • Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands; Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, the NetherlandsSwedish 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 (creator_code:org_t)

Related titles

  • In:Hearing ResearchAmsterdam, Netherlands : Elsevier339, s. 60-680378-59551878-5891

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