Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment

Author:

Jonard Laurence1,Brotto Davide2ORCID,Moreno-Pelayo Miguel A.3ORCID,del Castillo Ignacio3ORCID,Kremer Hannie4ORCID,Pennings Ronald45ORCID,Caria Helena67ORCID,Fialho Graça6,Boudewyns An8ORCID,Van Camp Guy9ORCID,Ołdak Monika10ORCID,Oziębło Dominika10ORCID,Deggouj Naïma11ORCID,De Siati Romolo Daniele11ORCID,Gasparini Paolo12,Girotto Giorgia12ORCID,Verstreken Margriet13,Dossena Silvia14ORCID,Roesch Sebastian15ORCID,Battelino Saba16ORCID,Trebušak Podkrajšek Katarina17ORCID,Warnecke Athanasia1819,Lenarz Thomas1819ORCID,Lesinski-Schiedat Anke20,Mondain Michel21,Roux Anne-Françoise22ORCID,Denoyelle Françoise23,Loundon Natalie123,Serey Gaut Margaux1ORCID,Trevisi Patrizia2,Rubinato Elisa12,Martini Alessandro2ORCID,Marlin Sandrine124ORCID

Affiliation:

1. Centre de Référence «Surdités Génétiques», Fédération de Génétique, Centre de Recherche en Audiologie (CREA), Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, 75015 Paris, France

2. ENT Unit, Neurosciences Department, University of Padova, 35122 Padova, Italy

3. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto Ramón y Cajal deInvestigaciones Sani-tarias (IRYCIS), Genetics Department, University hospital Ramón y Cajal, 28034 Madrid, Spain

4. Department of Otorhinolaryngology and Department of Human Genetics, Hearing & Genes, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6525 XZ Nijmegen, The Netherlands

5. Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6525 XZ Nijmegen, The Netherlands

6. BioISI—Biosystems & Integrative Sciences Institute, Faculty of Sciences, University of Lisboa, 1649-004 Lisboa, Portugal

7. Biomedical Sciences Department, CIIAS—School of Health, Polytechnic Institute of Setubal, 2914-503 Setubal, Portugal

8. Department of Otorhinolaryngology, Head and Neck Surgery, Antwerp University Hospital, University of Antwerp, 2000 Edegem, Belgium

9. Center for Medical Genetics, University of Antwerp, 2000 Antwerp, Belgium

10. Department of Genetics, Institute of Physiology and Pathology of Hearing, 02-042 Warsaw, Poland

11. ENT Department, UCLouvain, Academic Hospital Saint-Luc-Brussels, 1200 Bruxelles, Belgium

12. Medical Genetics, Institute for Ma-ternal and Child Health (IRCCS) “Burlo Garofolo”, Department of Medical, Surgery and Health Sciences, University of Trieste, 34127 Trieste, Italy

13. European Institute for ORL, GZA Campus St Augustinus, 2610 Antwerp, Belgium

14. Institute of Pharmacology and Toxicology, Paracelsus Medical University, 5020 Salzburg, Austria

15. Department of Otorhinolaryngology, Head and Neck Surgery, Paracelsus Medical University, 5020 Salzburg, Austria

16. Department of Otorhinolaryngology and Cervicofacial Surgery, University Medical Centre Ljubljana, Medical Faculty, University of Ljubljana, 1000 Ljubljana, Slovenia

17. Institute of Biochemistry and Molecular Genetics, Medical Faculty, University of Ljubljana, 1000 Ljubljana, Slovenia

18. Department of Otorhinolaryngology—Head and Neck Surgery, Hannover Medical School, D-30625 Hannover, Germany

19. Cluster of Excellence Hearing4all, German Research Foundation, Oldenburg 26129, Germany

20. Medical Head German Hearing Center, Department of Otorhinolaryngology, Medical University of Hannover, D-30625 Hannover, Germany

21. ENT Department, CHU Montpellier, Université de Montpellier, 34090 Montpellier, France

22. Laboratoire de Génétique Moléculaire, CHU de Montpellier, Université de Montpellier, 34090 Montpellier, France

23. Service d’ORL Pédiatrique et de Chirurgie Cervico-Faciale, INSERM UMR 1120, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, 75015 Paris, France

24. Laboratory of Embryology and Genetics of Malformations, Imagine Institute, INSERM UMR 1163, Université de Paris, 75015 Paris, France

Abstract

The cause of childhood hearing impairment (excluding infectious pathology of the middle ear) can be extrinsic (embryofoetopathy, meningitis, trauma, drug ototoxicity, noise trauma, etc [...]

Publisher

MDPI AG

Subject

Podiatry,Otorhinolaryngology

Reference25 articles.

1. Toriello, H.V., and Smith, S.D. (2013). Hereditary Hearing Loss and Its Syndromes, Oxford University Press. [3rd ed.].

2. (2022, November 16). Hereditary Hearing Loss. Available online: https://hereditaryhearingloss.org/.

3. Hearing loss and congenital CMV infection: A systematic review;Goderis;Pediatrics,2014

4. Usher syndrome type 1: Early detection of electroretinographic changes;Renault;Eur. J. Paediatr. Neurol.,2009

5. Mutation screening of the EYA1, SIX1 and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations;Krug;Hum. Mutat.,2011

Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3