Genetic Deafness ENG

French national reference center for genetic deafness

Deafness is the most frequent form of sensorial defect; it is reported to impair 1 children over 1000 at birth; 1 over 700 before adult age and an important percentage of the adult population. Although deafness is not rare, it gathers an important set of genetic rare diseases. It is estimated that 80% of infant hearing loss have genetic origins. Concerning hearing loss in adult population, the genetic part is yet to be determined but will for sure be important. To date, more than 100 genetic forms of isolated hearing loss are clearly identified and more than 500 syndromes (including deafness) have been described.

Logo SensgeneWithin the framework of the rare disease plan projects, the reference center for genetic deafness is attached to the SENSGENE rare diseases healthcare network (coordinated by Professor Hélène Dollfus, Strasbourg University hospital) and therefore carries out all the missions of the network in relation to genetic deafness. The reference center is also affiliated with the Rare craniofacial anomalies and ENT disorders European Reference Network (ERN).Logo ERN Cranio
> Learn more about the paediatric audiology research centre

Bandeau ACFOS 2024

On Tuesday, November 19 and Wednesday, November 20, 2024, the ACFOS association is organizing its 20th annual symposium on the theme: 10 years of neonatal hearing screening and early diagnosis: What has been achieved? What are the prospects?

> More information on the ACFOS symposium and online registration


Sandrine Marlin Surdités

Dr Sandrine Marlin


Phone + 33 (0) 1 44 49 57 44

> Send a mail

When making an appointment, please mention Dr. Marlin’s name and specify if it is :
– a first appointment
– or a follow-up appointment


Photo plaquette surdités anglais

The reference center for genetic deafness (RCGD) is unique in France. It has been created in 2000 by Dr Sandrine Marlin and accredited during the first french rare diseases national plan in 2004.

Located in Necker Hospital (dedicated to children), the center coordinates a national network composed by 2 constitutive sites : in La Pitié-Salpétrière (dedicated to adult) directed by Dr Isabelle Mosnier and in Lille directed by Dr Catherine Vincent Delorme (children and adult) ; and 20 competence centers displayed in France (metropolitan and overseas). The network regroups clinical geneticists, ENT, and molecular biologists.

Each year the RCGD of Necker’s hospital receives 700 different families. The patient care is assured by a team composed with a geneticist doctor, a genetic counselor, a clinical psychologist, a nurse and a secretary, working together with the ENT departments of Necker and La Pitié-Salpêtrière, leaders in deaf patient care in France. The center is located in medical genetic Department of Imagine institute in Necker Hospital.

The RCGD and its national network have defined a patient care permitting the diagnosis for deaf children, teenagers and young adults  improving the transition from children to adult hospital.

  • Isolated genetic deafness of recessive transmission
  • Isolated genetic deafness of dominant transmission
  • Isolated genetic deafness linked to the X chromosome
  • Mitochondrial genetic isolated deafness
  • Isolated auditory neuropathies
  • Syndromic auditory neuropathies
  • Waardenburg syndrome
  • Usher syndrome
  • Pendred syndrome
  • Branchio-oto-renal syndrome
  • Stickler syndrome
  • Noonan syndrome
  • H syndrome
  • 22q11 deletion syndrome
  • CHARGE syndrome
  • Franceschetti – Treacher Collins syndrome
  • Goldenhar syndrome
  • Monosomy 18q
  • Wolfram syndrome
  • Perrault syndrome
  • Rosai Dorfman syndrome
  • LADD syndrome
  • KBG syndrome
  • Branchio-oculu-facial syndrome
  • Hypoparathyroidism deafness renal dysplasia syndrome
En savoir +


Sandrine Marlin Surdités

Head of the reference center
Dr Sandrine Marlin

Nathalie Loundon Surdités

Dr Natalie Loundon

Dr Margaux Serey Gaut

Dr Margaux Serey-Gaut


photo-identite-femme magec2

Dr Laurence Jonard
PharmD, PhD

Genetic counsellor

photo-identite-femme magec2

Souad Gherbi


Sylvain Ernest Surdités

Sylvain Ernest


Jeanne Cador Surdités

Jeanne Cador


Fabienne Saint Jalmes Surdités

Fabienne Saint Jalmes


photo-identite-femme magec2

Eva Leite Freire

Sensgene project manager

Afida Djabri Surdités

Afida Djabri

The National Diagnostic and Care Protocols (NDCP or PNDS in French) are best practice guidelines for rare diseases. The objective of a PNDS is to explain to the professionals concerned the optimal diagnostic and therapeutic management and the care pathway for a patient suffering from a given rare disease.

As provided for in the 2011-2014 second national plan for rare diseases, they are developed by reference and competence centers for rare diseases using a method proposed by the Haute Autorité de Santé (HAS).

The PNDS include a « summary for the treating physician » section.

« Light4deaf: Natural history study of Usher syndrome in a cohort of patients followed longitudinally for 5 years »

Genetic study of isolated malformations of the cochlear nerves

Psychosocial determinants of the impact of deafblind disability on autonomy within the life course


The simplified French Matrix. A tool for evaluation of speech intelligibility in noise.
I Prang, M Parodi, C Coudert, S Legoff, M Exter, M Buschermöhle, F Denoyelle, N Loundon
Eur Ann Otorhinolaryngol Head Neck Dis, 2021 Sep, PMID: 33422468 DOI: 10.1016/j.anorl.2020.12.003

Auditory processing disorder in children: the value of a multidisciplinary assessment.
Isabelle Rouillon, Aude de Lamaze, Marlène Ribot, Gregory Collet, Théodora de Bollardière, Razane Elmir, Marine Parodi, Sophie Achard, Françoise Denoyelle, Natalie Loundon
Eur Arch Otorhinolaryngol, 2021 Dec, PMID: 33462745 DOI: 10.1007/s00405-020-06601-8

Outcome for bilateral cochlear implantation in patients with congenital Cytomegalovirus infection.
C Courtois, M Blanchard, I Rouillon, M Parodi, A De Lamaze, I Prang, V Couloigner, F Denoyelle, N Loundon
Eur Ann Otorhinolaryngol Head Neck Dis, 2021 Oct, PMID: 33495071 DOI: 10.1016/j.anorl.2021.01.002

The role of computed tomography and magnetic resonance imaging for preoperative pediatric cochlear implantation work-up in academic institutions.
Art A Ambrosio, Natalie Loundon, Daniel Vinocur, Peter Kruk, Hubert Ducou Le Pointe, Francois Chalard, Matthew Zapala, Daniela Carvalho
Cochlear Implants Int, 2021 Mar, PMID: 33043845 DOI: 10.1080/14670100.2020.1830239

Telemedicine in Audiology. Best practice recommendations from the French Society of Audiology (SFA) and the French Society of Otorhinolaryngology-Head and Neck Surgery (SFORL).
H Thai-Van, D Bakhos, D Bouccara, N Loundon, M Marx, T Mom, I Mosnier, S Roman, C Villerabel, C Vincent, F Venail
Eur Ann Otorhinolaryngol Head Neck Dis, 2021 Oct, PMID: 33097467 PMCID: PMC7575454 DOI: 10.1016/j.anorl.2020.10.007

Dopachrome tautomerase variants in patients with oculocutaneous albinism.
Perrine Pennamen, Angèle Tingaud-Sequeira, Iveta Gazova, Margaret Keighren, Lisa McKie, Sandrine Marlin, Souad Gherbi Halem, Josseline Kaplan, Cédric Delevoye, Didier Lacombe, Claudio Plaisant, Vincent Michaud, Eulalie Lasseaux, Sophie Javerzat, Ian Jackson, Benoit Arveiler
Genet Med, 2021 Mar, PMID: 33100333 DOI: 10.1038/s41436-020-00997-8

Arterial spin labeling brain MRI study to evaluate the impact of deafness on cerebral perfusion in 79 children before cochlear implantation.
Arnaud Coez, Ludovic Fillon, Ana Saitovitch, Caroline Rutten, Sandrine Marlin, Jennifer Boisgontier, Alice Vinçon-Leite, Hervé Lemaitre, David Grévent, Charles-Joris Roux, Volodia Dangouloff-Ros, Raphaël Levy, Eric Bizaguet, Isabelle Rouillon, Eréa Noël Garabédian, Françoise Denoyelle, Monica Zilbovicius, Natalie Loundon, Nathalie Boddaert
Neuroimage Clin, 2021, PMID: 33369563 PMCID: PMC7777537 DOI: 10.1016/j.nicl.2020.102510

Long-term outcomes of cartilage tympanoplasty in 139 ears in children.
François Simon, Briac Thierry, Tioka Rabeony, Florian Verrier, Caroline Elie, Natalie Loundon, Nicolas Leboulanger, Vincent Couloigner, Erea-Noël Garabedian, Françoise Denoyelle
Clin Otolaryngol, 2021 Nov, PMID: 33993647 DOI: 10.1111/coa.13801

[Neonatal hearing screening].
Françoise Denoyelle, Isabelle Rouillon, Fiona Alvin, Marine Parodi, Vincent Couloigner, Natalie Loundon, Noël Garabédian
Med Sci (Paris), 2021 May, PMID: 34003098 DOI: 10.1051/medsci/2021064

Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss.
Sissy Bassani, Edward van Beelen, Mireille Rossel, Norine Voisin, Anna Morgan, Yoan Arribat, Nicolas Chatron, Jacqueline Chrast, Massimiliano Cocca, Benjamin Delprat, Flavio Faletra
Hum Mol Genet, 2021 Sep 15, PMID: 34059922 DOI: 10.1093/hmg/ddab145


The French Cochlear Implant Registry (EPIIC): Perception and language results in infants with cochlear implantation under the age of 24 months.
N Loundon, F Simon, K Aubry, P Bordure, A Bozorg-Grayeli, O Deguine, C Eyermann, V Franco-Vidal 8, B Godey, N Guevara, A Karkas, N Klopp, M Labrousse, J-P Lebreton, Y Lerosey, E Lescanne, R Marianowski, F Merklen, K Mezouaghi, T Mom, S Moreau, I Mosnier, N Noël-Petroff, C Parietti-Winkler, P Piller, C Poncet, E Radafy, S Roman, S Roux-Vaillard, S Schmerber, L Tavernier, E Truy, C Vincent, A De Lamaze
Eur Ann Otorhinolaryngol Head Neck Dis, 2020 Sep, PMID: 32863156 DOI: 10.1016/j.anorl.2020.07.010

MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review.
Elisa Rubinato, Sophie Rondeau, Fabienne Giuliano, Manoelle Kossorotoff, Marine Parodi, Souad Gherbi, Julie Steffan, Laurence Jonard, Sandrine Marlin
Eur J Med Genet, 2020 Mar, PMID: 31536828 DOI: 10.1016/j.ejmg.2019.103768

Heimler Syndrome.
S Mechaussier, I Perrault, H Dollfus, A Bloch-Zupan, N Loundon, L Jonard, S Marlin
Adv Exp Med Biol, 2020, PMID: 33417209 DOI: 10.1007/978-3-030-60204-8_7

PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.
Oriane Mercati, Marie-Thérèse Abi Warde, Geneviève Lina-Granade, Marlène Rio, Solveig Heide, Pascale de Lonlay, Irène Ceballos-Picot, Matthieu P Robert, Vincent Couloigner, Jacques Beltrand, Nathalie Boddaert, Diana Rodriguez, Elisa Rubinato, Jean-Michel Lapierre, Christophe Merlette, Sylvia Sanquer, Agnès Rötig, Holger Prokisch, Stanislas Lyonnet, Natalie Loundon, Josseline Kaplan, Jean-Paul Bonnefont, Arnold Munnich, Claude Besmond, Laurence Jonard, Sandrine Marlin
Eur J Med Genet, 2020 Nov, PMID: 32781272 DOI: 10.1016/j.ejmg.2020.104033

Mutation m.3395A > G in MT-ND1 leads to variable pathologic manifestations.
Nicolás Gutiérrez Cortés, Claire Pertuiset, Elodie Dumon, Marine Börlin, Barbara Da Costa, Marina Le Guédard, Tanya Stojkovic, Natalie Loundon, Isabelle Rouillon, Yann Nadjar, Thierry Letellier, Laurence Jonard, Sandrine Marlin, Christophe Rocher
Hum Mol Genet, 2020 Apr 15, PMID: 32011699 DOI: 10.1093/hmg/ddaa020

Psychosocial determinants associated with quality of life in people with usher syndrome. A scoping review.
Marine Arcous, Olivier Putois, Sophie Dalle-Nazébi, Sylvain Kerbourch, Anaelle Cariou, Ines Ben Aissa, Sandrine Marlin, Rémy Potier
Disabil Rehabil, 2020 Sep, PMID: 30974979 DOI: 10.1080/09638288.2019.1571637


EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state.
Issa, N. Bondurand, E. Faubert, S. Poisson, L. Lecerf, P. Nitschke, N. Deggouj, N. Loundon, L. Jonard, A. David, Y Sznajer, P. Blanchet , S. Marlin, V. Pingault.
Hum Mutat. 2017 May, PMID: 28236341 DOI: 10.1002/humu.23206

FDXR Mutations cause sensorial neuropathies and expand the spectrum of mitochondrial Fe-S-Synthesis diseases
Paul, A. Drecourt, F. Petit, D.D. Deguine, C. Vasnier, M. Oufadem, C. Masson, C. Bonnet, S. Mahmoudi, I. Mosnier, L. Mahieu, D. Bouccara, J. Kaplan, G. Challe, C. Domange, F. Mochel, O. Sterkers, S. Gerber, P. Nitschke, C. Bole-Feysot, L. Jonard, S. Gherbi, O. Mercati, I. Ben Aissa, S. Lyonnet, A. Rötig, A. Delahodde, S. Marlin.
Am J Hum Genet. 2017 Oct 5, PMID: 28965846 PMCID: PMC5630197 DOI: 10.1016/j.ajhg.2017.09.007

Mutations in TUBB4B cause a distinctive sensorineural disease.
R. Luscan, S. Mechaussier, A. Paul, G. Tian, X. Gerard, S. Defoort-Dellhemmes, N. Loundon, I. Audo, S. Bonnin, J.-F. Le Gargasson, J. Dumont, N. Goudin, M. Garfa-Traoré, M. Bras, A. Pouliet, B. Bessieres, N. Boddaert, J. -A. Sahel, S. Lyonnet, J. Kaplan, N.-J. Cowan, J.-M. Rozet, S. Marlin, I. Perrault.
Am J Hum Genet. 2017 Dec, PMID: 29198720 PMCID: PMC5812887 DOI: 10.1016/j.ajhg.2017.10.010


Surdités génétiques
S. Marlin, , F. Denoyelle
Elsevier Masson Consulte, 2016, Doi : 10.1016/S0246-0351(16)58505-5

An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature
Lerat, L. Jonard, N. Loundon, S. Christin-Maitre, D. Lacombe, C. Goizet, C. Rouzier, L. Van Maldergem, S. Gherbi, E.N. Garabedian, J.-P. Bonnefont, P. Touraine, I. Mosnier, A. Munnich, F. Denoyelle, S. Marlin.
Hum Mutat. 2016 Dec, PMID: 27650058 DOI: 10.1002/humu.23120


Mᵉ Duchemin: a lawyer who is deaf but not speechless, thanks to artificial intelligence
L’Obs | 03.07.2024
Pauline Duchemin is deaf. But with his Californian start-up, her brother, Thibault, has given her precious autonomy to complete her law studies. And even litigate. Read more >


Early hearing loss: at least 500 forms of genetic deafness
Le Dauphiné libéré | 03.17.2021
There are hundreds of them, and sometimes affect from birth: early forms of deafness are the subject of research that is akin to painstaking work. > Read more

Deafness in children: 80% of early forms of genetic origin
Le Progrès | 03.17.2021
The majority of hearing loss diagnosed in newborns and children is genetic. 200 genes are indeed identified in the occurrence of this handicap. > Read more

Deafness: early forms often genetic
Sud Ouest | 03.11.2021
In France, deafness affects 1 in 1,000 children at birth and 1 in 700 before adulthood. A point raised by Imagine, the Institute of Genetic Diseases, on the occasion of the National Hearing Day organized this Thursday, March 11. > Read more

Deafness: early forms, often genetic
La Dépêche |03.11.2021
The majority of deafness diagnosed in newborns and children is genetic in origin. A total of 200 genes have been identified in the development of this disorder. Let’s take stock of the situation on the occasion of the National Hearing Day organized on March 11. > Read more


What do we pass on genetically to our children?
Le Figaro madame | 07.07.2017
Physical appearance and intelligence are transmitted through genes. But still ? Responses from Sandrine Marlin, geneticist. > Read more


Sandrine Marlin dialogue avec les sourds
Le Monde Science et TechnoThis specialist in genetic forms of deafness wants to stay in contact with patients to feed her research on hearing disorders. > Read more

Coordinating center

AP-HP  Necker – Enfants malades hospital
Genetics department – Dr Sandrine Marlin
149, rue de Sèvres – 75743 Paris cedex 15
Phone. +33 (0)1 71 39 69 04
Email :

Constituent centers

AP-HP Pitié-Salpêtrière university hospital
Dr Isabelle Mosnier
47-83 boulevard de l’Hôpital, 75651 Paris
Phone. +33 (0)1 84 82 78 47
Email :

AP-HP Lariboisière hospital
Dr Charlotte Hautefort
2 rue Ambroise-Paré, 75010 Paris
Phone. +33 (0)1 49 95 80 64
Email :

Lille CHRU
Dr Catherine Vincent-Delorme
2 avenue Oscar Lambret, 59037 Lille Cedex
Phone. +33 (0)3 20 44 49 11
Email :

Toulouse university hospital, Purpan
Dr Delphine Dupin-Deguine
2 rue Viguerie, 31059 Toulouse Cedex 09
Phone. +33 (0)5 61 77 71 94
Email :

Montpellier university hospital, Gui de Chauliac hospital
Pr Michel Mondain
80 avenue Augustin Fliche, 34295 Montpellier cedex 5
Phone. +33 (0)4 67 33 68 04
Email :

Competence centers

AP-HM, Timone Child CHU
Dr Sabine Sigaudy
264 rue Saint-Pierre, 13005 Marseille
Phone. +33 (0)4 91 38 67 49
Email :

AP-HP, Robert-Debré university hospital
Dr Laurence Perrin
48 boulevard Sérurier, 75019 Paris
Phone. +33 (0)1 40 03 36 18
Email :

Grenoble Alpes CHU
Dr Klauss Dietrich
Avenue des maquis du Grésivaudan, 38700 La Tronche
Phone. +33 (0)4 76 76 72 85
Email :

Nantes CHU , Hotel Dieu
Dr Marie Vincent
1 place Alexis Ricordeau, 44093 Nantes Cedex
Phone. +33 (0)2 40 08 32 45
Email :

Angers CHU
Dr Estelle Colin
4 rue Larrey, 49100 Angers
Phone. +33 (0)2 41 35 38 83
Email :

Rouen university hospital
Dr Anne-Marie Gerrault
37 boulevard Gambetta, 76031 Rouen Cedex
Phone. +33(0)2 32 88 87 47
Email :

St Etienne CHU, North Hospital
Dr Renaud Touraine
Avenue Albert Raimond, 42055 Saint Etienne
Phone. +33(0)4 77 82 81 16
Email :

Dijon CHU, Children’s Hospital
Dr Sophie Nambot
14 rue Gaffarel, 21079 Dijon Cedex
Phone. +33 (0)3 80 29 53 13
Email :

Tours CHRU, Bretonneau Hospital
Pr Annick Toutain
2 boulevard Tonnelé, 37044 Tours Cedex 9
Phone. +33 (0)2 47 47 88 50
Email :

Reunion CH, South site
Dr Marta Spodenkiewicz
97 avenue du président Mitterand, 97448 Saint-Pierre Cedex
Phone. +33 (0)2 62 71 78 70
Email :

Clermont-Ferrand CHU, Estaing
Dr Fanny Laffargue
1 place Lucie et Raymond Aubrac, 63003 Clermont-Ferrand
Phone. +33 (0)4 73 75 06 53
Email :

Le Mans CH
Dr Radka Stoeva
194 avenue Rubillard, 72037 Le Mans Cedex
Phone. +33 (0)2 44 71 01 84
Email :

Nancy CHRU, Children’s hospital
Dr Laetitia Lambert
29 avenue du Maréchal de Lattre de Tassigny, 54035 Nancy Cedex
Phone. +33 (0)3 83 15 36 22
Email :

Lyon Civil Hospices
Dr Charles-Patrick Edery
3 quai des Célestins, 69002 Lyon
Phone. +33 (0)4 72 12 96 98
Email :

Reims university hospital, white house hospital
Dr Céline Poirsier
47 rue Cognacq Jay, 51092 Reims Cedex
Phone. +33 (0)3 26 78 78 50
Email :

Rennes university hospital, Pontchaillou hospital
Dr Marion Blanchard
2 rue Henri Le Guilloux, 35000 Rennes
Phone. +33 (0)2 99 28 42 85
Email :

Besançon CHU, Jean Minjoz
Dr Juliette Piard
3 boulevard Fleming, 25000 Besançon
Phone. +33 (0)3 81 21 81 87
Email :

Strasbourg HUS, Hautepierre hospital
Pr Hélène Dollfus
1 place de l’Hôpital, BP 426, 67091 Strasbourg
Phone. +33 (0)3 69 55 19 55
Email :

Bordeaux university hospital, Pellegrin hospital
Dr Marine Legendre
Place Amélie Raba Léon, 33076 Bordeaux Cedex
Phone. +33 (0)5 57 82 03 45
Email :

CRESAM is a structure that pursues an original project at the service of children and adults suffering from double sensory deficiency.

Go to the website>>

The CNRHR Robert Laplane has a role of specific clinical expertise, transfer and development of competences, animation of specialized networks as well as formalization and diffusion of knowledge concerning the situations of rare handicap concerning deaf children.

Go to the website>>

For information on deafness, parents of deaf children and people with hearing loss have a national system consisting of a telephone platform (0812 040 040) and a website.

Go to the website>>

All about Usher syndrome

Go to the website>>

Acfos dedicates its action to knowledge and training about deafness, mainly congenital or acquired during childhood.

Go to the website>>

FISAF, the national federation for the inclusion of people with sensory disabilities and DYS disorders in France, created in 1925, recognized as being of public utility, federates 180 associations, establishments and services that welcome, train and accompany more than 16,000 people with sensory disabilities and DYS disorders with or without associated handicaps thanks to a network of 6,000 professionals representing more than 50 professions.

Go to the website>>

Handicap auditif adulte, Fiche Handiconnect, surdité génétique

Screening and prevention of hearing impairment in adults

Handicap auditif enfant, Fiche Handiconnect, surdité génétique

Screening and prevention of hearing impairment in children

Troubles de l'audition, Fiche Handiconnect, surdité génétique

Definition, prevalence and semantics of hearing disorders

Etiologies, Fiche Handiconnect, surdité génétique

Etiologies, differential diagnostics of deafness – Watch points

Réhabilitation auditive, Fiche Handiconnect, surdité génétique

How do I communicate with a deaf/hard of hearing person? Hearing rehabilitation

Communiquer, Fiche Handiconnect, surdité génétique

How do I communicate with a deaf/hard of hearing person?

Covid19, Fiche Handiconnect, surdité génétique

Reception of a deaf patient with suspicion of COVID-19

Vignette flyer genetic deafness

Genetic deafness explained to children

Contact information

Necker-Enfants malades university hospital
> Clinical genetics department

149 rue de Sèvres
75743 PARIS Cedex 15

In Necker, the reference center for genetic deafness in brief 

patients followed at least once a year*
medical consultations*
day hospitalizations*
fully hospitalized patients*
authorized therapeutic education programs*
patients trained in therapeutic education*
ongoing reasearch projects*
university courses*
teleconsultation procedures*

* data valid for 2022