The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management

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The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management

Tranebjærg, Lisbeth (författare): Department of Otorhinolaryngology, Head and Neck Surgery and Audiology, Rigshospitalet/Bispebjerg, Copenhagen, Denmark; Department of Clinical Genetics, The Kennedy Center, Copenhagen University Hospital, Copenhagen, Denmark; Institute of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark

Strenzke, Nicola (författare): Auditory Systems Physiology Group, InnerEarLab, Department of Otolaryngology, University Medical Center, Göttingen, Germany

Lindholm, Sture (författare): ENT-Department, County Hospital Kalmar, Kalmar, Sweden

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Rendtorff, Nanna D. (författare): Department of Clinical Genetics, The Kennedy Center, Copenhagen University Hospital, Copenhagen, Denmark

Poulsen, Hanne (författare): Institute of Biomedicine, University of Aarhus, Aarhus, Denmark

Khandelia, Himanshu (författare): MEMPHYS-Center for Biomembrane Physics, University of Southern Denmark, Odense, Denmark

Kopec, Wojciech (författare): MEMPHYS-Center for Biomembrane Physics, University of Southern Denmark, Odense, Denmark; Computational Biomolecular Dynamics Group, Max Planck Institute for Biophysical Chemistry, Göttingen, Germany

Lyngbye, Troels J Brünnich (författare): Pediatric Department, Aarhus University Hospital, Aarhus, Denmark

Hamel, Christian (författare): Maladies Sensorielles Genetiques, CHRU, Montpellier, France; INSERM U1051, Institute for Neurosciences of Montpellier, Montpellier, France; Universite Montpellier, Montpellier, France

Delettre, Cecile (författare): INSERM U1051, Institute for Neurosciences of Montpellier, Montpellier, France; Universite Montpellier, Montpellier, France

Bocquet, Beatrice (författare): Maladies Sensorielles Genetiques, CHRU, Montpellier, France; INSERM U1051, Institute for Neurosciences of Montpellier, Montpellier, France; Universite Montpellier, Montpellier, France

Bille, Michael (författare): Department of Otorhinolaryngology, Head and Neck Surgery and Audiology, Rigshospitalet/Gentofte Hospital, Hellerup, Denmark

Owen, Hanne H. (författare): Department of Audiology, Aarhus University Hospital, Aarhus, Denmark

Bek, Toke (författare): Department of Ophthalmology, Aarhus University Hospital, Aarhus, Denmark

Jensen, Hanne (författare): Eye Department Glostrup Hospital, Rigshospitalet, The Kennedy Centre, Glostrup, Denmark

Østergaard, Karen (författare): Department of Neurology, Aarhus University Hospital and University of Aarhus, Aarhus, Denmark

Möller, Claes, 1950- (författare): Örebro universitet,Institutionen för hälsovetenskaper,Audiological Research Centre

Luxon, Linda (författare): Department of Neurotology, National Hospital for Neurology, Queen Square, London, UK

Carr, Lucinda (författare): Department of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

Wilson, Louise (författare): North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK

Rajput, Kaukab (författare): Cochlear Implant Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK

Sirimanna, Tony (författare): Department of Audiovestibular Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK

Harrop-Griffiths, Katherine (författare): Nuffield Hearing and Speech Centre, Royal National Throat Nose and Ear Hospital, London, UK

Rahman, Shamima (författare): Genetic and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, London, UK

Vona, Barbara (författare): Institute of Human Genetics, Julius Maximilians University Würzburg, Würzburg, Germany

Doll, Julia (författare): Institute of Human Genetics, Julius Maximilians University Würzburg, Würzburg, Germany

Haaf, Thomas (författare): Institute of Human Genetics, Julius Maximilians University Würzburg, Würzburg, Germany

Bartsch, Oliver (författare): University Medical Centre, Institute of Human Genetics, Johannes Gutenberg University Mainz, Mainz, Germany

Rosewich, Hendrik (författare): Division of Pediatric Neurology, Department of Pediatric and Adolescent Medicine, University Medical Center, Göttingen, Germany

Moser, Tobias (författare): Institute for Auditory Neuroscience and InnerEarLab, University Medical Center, Göttingen, Germany

Bitner-Glindzicz, Maria (författare): North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; Genetic and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, London, UK

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(creator_code:org_t)

2018-01-05
2018
Engelska.
Ingår i: Human Genetics. - : Springer. - 0340-6717 .- 1432-1203. ; 137:2, s. 111-127

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Tidskriftsartikel (refereegranskat)

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Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing impairment (CAPOS) is a rare clinically distinct syndrome caused by a single dominant missense mutation, c.2452G>A, p.Glu818Lys, in ATP1A3, encoding the neuron-specific alpha subunit of the Na+/K+-ATPase α3. Allelic mutations cause the neurological diseases rapid dystonia Parkinsonism and alternating hemiplegia of childhood, disorders which do not encompass hearing or visual impairment. We present detailed clinical phenotypic information in 18 genetically confirmed patients from 11 families (10 previously unreported) from Denmark, Sweden, UK and Germany indicating a specific type of hearing impairment-auditory neuropathy (AN). All patients were clinically suspected of CAPOS and had hearing problems. In this retrospective analysis of audiological data, we show for the first time that cochlear outer hair cell activity was preserved as shown by the presence of otoacoustic emissions and cochlear microphonic potentials, but the auditory brainstem responses were grossly abnormal, likely reflecting neural dyssynchrony. Poor speech perception was observed, especially in noise, which was beyond the hearing level obtained in the pure tone audiograms in several of the patients presented here. Molecular modelling and in vitro electrophysiological studies of the specific CAPOS mutation were performed. Heterologous expression studies of α3 with the p.Glu818Lys mutation affects sodium binding to, and release from, the sodium-specific site in the pump, the third ion-binding site. Molecular dynamics simulations confirm that the structure of the C-terminal region is affected. In conclusion, we demonstrate for the first time evidence for auditory neuropathy in CAPOS syndrome, which may reflect impaired propagation of electrical impulses along the spiral ganglion neurons. This has implications for diagnosis and patient management. Auditory neuropathy is difficult to treat with conventional hearing aids, but preliminary improvement in speech perception in some patients suggests that cochlear implantation may be effective in CAPOS patients.

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The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management

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