Catching up but still miles behind-a patient registry for otoferlin

Barbara Vona^{1

2}, Bernd Wollnik^{1

3}, Nicola Strenzke^{2

4}, Tobias Moser^{5

6

7}

Affiliations

¹ Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
² Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Göttingen, Germany.
³ Cluster of Excellence "Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells" (MBExC), University of Göttingen, Göttingen, Germany.
⁴ Department of Otolaryngology, University Medical Center Göttingen, Göttingen, Germany.
⁵ Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Göttingen, Germany. tmoser@gwdg.de.
⁶ Cluster of Excellence "Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells" (MBExC), University of Göttingen, Göttingen, Germany. tmoser@gwdg.de.
⁷ Auditory Neuroscience and Synaptic Nanophysiology Group, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany. tmoser@gwdg.de.

PMID: 38825639
PMCID: PMC11263334
DOI: 10.1038/s12276-024-01247-6

Catching up but still miles behind-a patient registry for otoferlin

Barbara Vona et al. Exp Mol Med. 2024 Jun.

. 2024 Jun;56(6):1472-1473.

doi: 10.1038/s12276-024-01247-6. Epub 2024 Jun 3.

Authors

Barbara Vona^{1

2}, Bernd Wollnik^{1

3}, Nicola Strenzke^{2

4}, Tobias Moser^{5

6

7}

Affiliations

¹ Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
² Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Göttingen, Germany.
³ Cluster of Excellence "Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells" (MBExC), University of Göttingen, Göttingen, Germany.
⁴ Department of Otolaryngology, University Medical Center Göttingen, Göttingen, Germany.
⁵ Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Göttingen, Germany. tmoser@gwdg.de.
⁶ Cluster of Excellence "Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells" (MBExC), University of Göttingen, Göttingen, Germany. tmoser@gwdg.de.
⁷ Auditory Neuroscience and Synaptic Nanophysiology Group, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany. tmoser@gwdg.de.

PMID: 38825639
PMCID: PMC11263334
DOI: 10.1038/s12276-024-01247-6

No abstract available

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Conflict of interest statement

The authors declare no competing interests.

References

1. Yasunaga, S. et al. A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. Nat. Genet.21, 363–369 (1999). 10.1038/7693 - DOI - PubMed
1. Lv, J. et al. AAV1-hOTOF gene therapy for autosomal recessive deafness 9: a single-arm trial. Lancet. 10.1016/S0140-6736(23)02874-X (2024). - PubMed
1. Qi, J. et al. AAV-mediated gene therapy restores hearing in patients with DFNB9 deafness. Adv. Sci. (Weinh). 10.1002/advs.202306788 (2024). - PMC - PubMed
1. World Health Organization. World Report on Hearing (World Health Organization, 2021). - PMC - PubMed
1. Morton, C. C. & Nance, W. E. Newborn hearing screening—a silent revolution. N. Engl. J. Med.354, 2151–2164 (2006). 10.1056/NEJMra050700 - DOI - PubMed

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Catching up but still miles behind-a patient registry for otoferlin

Affiliations

Catching up but still miles behind-a patient registry for otoferlin

Authors

Affiliations

Conflict of interest statement

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