Nature Communications (Mar 2020)
Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome
- Mengnan Li,
- Shin-ya Nishio,
- Chie Naruse,
- Meghan Riddell,
- Sabrina Sapski,
- Tatsuya Katsuno,
- Takao Hikita,
- Fatemeh Mizapourshafiyi,
- Fiona M. Smith,
- Leanne T. Cooper,
- Min Goo Lee,
- Masahide Asano,
- Thomas Boettger,
- Marcus Krueger,
- Astrid Wietelmann,
- Johannes Graumann,
- Bryan W. Day,
- Andrew W. Boyd,
- Stefan Offermanns,
- Shin-ichiro Kitajiri,
- Shin-ichi Usami,
- Masanori Nakayama
Affiliations
- Mengnan Li
- Laboratory for Cell Polarity and Organogenesis, Max Planck Institute for Heart and Lung Research
- Shin-ya Nishio
- Department of Otorhinolaryngology, Shinshu University School of Medicine
- Chie Naruse
- Institute of Laboratory Animals, Graduate School of Medicine, Kyoto University
- Meghan Riddell
- Laboratory for Cell Polarity and Organogenesis, Max Planck Institute for Heart and Lung Research
- Sabrina Sapski
- Department of Pharmacology, Max Planck Institute for Heart and Lung Research
- Tatsuya Katsuno
- Department of Otolaryngology - Head and Neck Surgery Kyoto University Graduate School of Medicine
- Takao Hikita
- Laboratory for Cell Polarity and Organogenesis, Max Planck Institute for Heart and Lung Research
- Fatemeh Mizapourshafiyi
- Laboratory for Cell Polarity and Organogenesis, Max Planck Institute for Heart and Lung Research
- Fiona M. Smith
- QIMR Berghofer Medical Research Institute
- Leanne T. Cooper
- QIMR Berghofer Medical Research Institute
- Min Goo Lee
- Department of Pharmacology, Yonsei University College of Medicine
- Masahide Asano
- Institute of Laboratory Animals, Graduate School of Medicine, Kyoto University
- Thomas Boettger
- Department of Cardiac Development and Remodelling, Max Planck Institute for Heart and Lung Research
- Marcus Krueger
- Institute for Genetics and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne
- Astrid Wietelmann
- MRI and µCT Service Group, Max Planck Institute for Heart and Lung Research
- Johannes Graumann
- Scientific Service Group Biomolecular Mass Spectrometry Max Planck Institute for Heart and Lung Research
- Bryan W. Day
- QIMR Berghofer Medical Research Institute
- Andrew W. Boyd
- QIMR Berghofer Medical Research Institute
- Stefan Offermanns
- Department of Pharmacology, Max Planck Institute for Heart and Lung Research
- Shin-ichiro Kitajiri
- Department of Otorhinolaryngology, Shinshu University School of Medicine
- Shin-ichi Usami
- Department of Otorhinolaryngology, Shinshu University School of Medicine
- Masanori Nakayama
- Laboratory for Cell Polarity and Organogenesis, Max Planck Institute for Heart and Lung Research
- DOI
- https://doi.org/10.1038/s41467-020-15198-9
- Journal volume & issue
-
Vol. 11,
no. 1
pp. 1 – 15
Abstract
While biallelic mutations of the SLC26A4 gene cause non-syndromic hearing loss with enlarged vestibular aqueducts or Pendred syndrome, a considerable number of patients carry mono-allelic mutations. Here the authors identify EPHA2 as another causative gene of Pendred syndrome with SLC26A4.
