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LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00008328naa a2200589 4500
001oai:DiVA.org:oru-50977
003SwePub
008160621s2016 | |||||||||||000 ||eng|
009oai:gup.ub.gu.se/243514
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-509772 URI
0247 a https://doi.org/10.1016/j.heares.2016.06.0082 DOI
0247 a https://gup.ub.gu.se/publication/2435142 URI
040 a (SwePub)orud (SwePub)gu
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Hartel, Bas P.u Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands; Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, the Netherlands4 aut
2451 0a A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa
264 1a Amsterdam, Netherlands :b Elsevier,c 2016
338 a print2 rdacarrier
500 a 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
520 a 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.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Oto-rhino-laryngologi0 (SwePub)302182 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Otorhinolaryngology0 (SwePub)302182 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Neurologi0 (SwePub)302072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Neurology0 (SwePub)302072 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Gastroenterologi0 (SwePub)302132 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Gastroenterology and Hepatology0 (SwePub)302132 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Reumatologi och inflammation0 (SwePub)302102 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Rheumatology and Autoimmunity0 (SwePub)302102 hsv//eng
653 a Oto-rhino-laryngologi
653 a Oto-Rhino-Laryngology
653 a Neurology
653 a Neurologi
7001 a Löfgren, Mariau 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, Sweden4 aut
7001 a Huygen, Patrick L. M.u Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands; Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, the Netherlands4 aut
7001 a Guchelaar, Irisu Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands; Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, the Netherlands4 aut
7001 a Lo-A-Njoe Kort, Nicoleu Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands; Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, the Netherlands4 aut
7001 a Sadeghi, André M.u Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi,Institute of Neuroscience and Physiology4 aut0 (Swepub:gu)xsadam
7001 a van Wijk, Erwinu Department of Otorhinolaryngology, Head, and Neck Surgery, Radboud University Medical Center, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands4 aut
7001 a Tranebjærg, Lisbethu Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark; Department of Otorhinolaryngology, Head and Neck Surgery and Audiology, Bispebjerg Hospital/Rigshospitalet, Copenhagen, Denmark4 aut
7001 a Kremer, Hannieu 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 Netherlands4 aut
7001 a Kimberling, William J.u Department of Otolaryngology, Molecular Otolaryngology, and Renal Research Laboratories, University of Iowa, Iowa City IA, United States of America4 aut
7001 a Cremers, Cor W. R. J.u Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands; Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, the Netherlands4 aut
7001 a Möller, Claes,d 1950-u 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, USA4 aut0 (Swepub:oru)cmr
7001 a Pennings, Ronald J. E.u 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, USA4 aut
7102 a Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, the Netherlands; Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, the Netherlandsb 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, Sweden4 org
7730 t Hearing Researchd Amsterdam, Netherlands : Elsevierg 339, s. 60-68q 339<60-68x 0378-5955x 1878-5891
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-50977
8564 8u https://doi.org/10.1016/j.heares.2016.06.008
8564 8u https://gup.ub.gu.se/publication/243514

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