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

Laurence Jonard¹, Davide Brotto², Miguel A Moreno-Pelayo³, Ignacio Del Castillo³, Hannie Kremer⁴, Ronald Pennings^{4

5}, Helena Caria^{6

7}, Graça Fialho⁶, An Boudewyns⁸, Guy Van Camp⁹, Monika Ołdak¹⁰, Dominika Oziębło¹⁰, Naïma Deggouj¹¹, Romolo Daniele De Siati¹¹, Paolo Gasparini¹², Giorgia Girotto¹², Margriet Verstreken¹³, Silvia Dossena¹⁴, Sebastian Roesch¹⁵, Saba Battelino¹⁶, Katarina Trebušak Podkrajšek¹⁷, Athanasia Warnecke^{18

19}, Thomas Lenarz^{18

19}, Anke Lesinski-Schiedat²⁰, Michel Mondain²¹, Anne-Françoise Roux²², Françoise Denoyelle²³, Natalie Loundon^{1

23}, Margaux Serey Gaut¹, Patrizia Trevisi², Elisa Rubinato¹², Alessandro Martini², Sandrine Marlin^{1

24}

Affiliations

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.

PMID: 37218840
PMCID: PMC10204519
DOI: 10.3390/audiolres13030029

Editorial

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

Laurence Jonard et al. Audiol Res. 2023.

. 2023 May 10;13(3):341-346.

doi: 10.3390/audiolres13030029.

Authors

Affiliations

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.

PMID: 37218840
PMCID: PMC10204519
DOI: 10.3390/audiolres13030029

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 [...].

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Conflict of interest statement

The authors declare no conflict of interest.

References

1. Toriello H.V., Smith S.D., editors. Hereditary Hearing Loss and Its Syndromes. 3rd ed. Oxford University Press; Oxford, UK: 2013.
1. Hereditary Hearing Loss. [(accessed on 16 November 2022)]. Available online: https://hereditaryhearingloss.org/
1. Goderis J., De Leenheer E., Smets K., Van Hoecke H., Keymeulen A., Dhooge I. Hearing loss and congenital CMV infection: A systematic review. Pediatrics. 2014;134:972–982. doi: 10.1542/peds.2014-1173. - DOI - PubMed
1. Flores-Guevara R., Renault F., Loundon N., Marlin S., Pelosse B., Momtchilova M., Auzoux-Cheve M., Vermersch A.I., Richard P. Usher syndrome type 1: Early detection of electroretinographic changes. Eur. J. Paediatr. Neurol. 2009;13:505–507. doi: 10.1016/j.ejpn.2008.10.002. - DOI - PubMed
1. Krug P., Morinière V., Marlin S., Koubi V., Gabriel H.D., Colin E., Bonneau D., Salomon R., Antignac C., Heidet L. 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. Hum. Mutat. 2011;32:183–190. doi: 10.1002/humu.21402. - DOI - PubMed

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

Affiliations

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

Authors

Affiliations

Abstract

Conflict of interest statement

References

Publication types