Genetic Deafness ENG

French national reference center for genetic deafness (RCGD)

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.

Within 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).
> Learn more about the paediatric audiology research centre

Bannière ACCFOS colloque surdités

On the occasion of its next annual conference, which will take place on 9 and 10 November 2022, ACFOS will address the theme of « Deafness and associated disorders: from diagnosis to support ». In this context, we wish to question professionals in contact with deaf children with associated disorders on their practices, their difficulties and their expectations.
Thank you in advance for taking a few minutes to complete the following questionnaire.
The results of the survey will be presented at the November conference.

Medical
team

Sandrine Marlin Surdités

Dr Sandrine Marlin
MD, PhD

Contact
us

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

Patient
pathway

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 +

Physicians

Sandrine Marlin Surdités

Head of the reference center
Dr Sandrine Marlin
MD, PhD

Nathalie Loundon Surdités

Dr Natalie Loundon
MD, PhD

Dr Margaux Serey Gaut

Dr Margaux Serey-Gaut
MD

Biologist

photo-identite-femme magec2

Dr Laurence Jonard
PharmD, PhD

Genetic counsellor

photo-identite-femme magec2

Souad Gherbi

Researcher

Sylvain Ernest Surdités

Sylvain Ernest

Psychologists

Jeanne Cador Surdités

Jeanne Cador

Nurse

Fabienne Saint Jalmes Surdités

Fabienne Saint Jalmes

Secretary

Eva Leite Freire Surdités

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

2021

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

2020

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

2017

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

2020

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

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 60 04


Constituent centers

AP-HP Pitié-Salpêtrière university hospital
Dr Isabelle Mosnier
47-83, boulevard de l’Hôpital 75651 Paris
Phone. +33 (0)1 42 17 74 40

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


Competence centers

AP-HM, Timone Child CHU
Dr Sabine Sigaudy
80, rue Brochier 13354 Marseille Cedex 5
Phone. +33 (0)4 94 38 67 49

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

Grenoble Alpes CHU
Pr Klauss Dietrich
Bd de la Chantourne CS 10217 – 38000 Grenoble
Phone. +33 (0)4 76 76 72 85

Nantes CHU , Hotel Dieu
Dr Vincent Marie
5, allée de l’Ile Gloriette BP 1005 44093 Nantes Cedex 1
Phone. +33 (0)2 40 08 32 45

Limoges CHU, Mother-Child hospital
Dr Justine Lerat
2, avenue Martin Luther King 87042 Limoges Cedex
Phone. +33 (0)5 55 05 55 55

Rouen university hospital
Dr Anne-Marie Gerrault
1, rue de Germont 76031 Rouen Cedex
Phone. +33 (0)2 32 88 87 47

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

Toulouse university hospital, Purpan
Pr Patrick Calvas
2, rue Viguerie 31059 Toulouse Cedex 09
Phone. +33 (0)5 61 77 90 79

Dijon CHU, Children’s Hospital
Dr Sébastien Moutton
1, bd Jeanne d’Arc – 21079 Dijon Cedex
Phone. +33 (0)3 80 29 53 13

Tours CHRU, Bretonneau Hospital
Pr Annick Toutain
2, boulevard Tonnelé 37044 Tours Cedex 9
Phone. +33 (0)2 47 47 47 99

Reunion CH, GHSR
Dr Marie Line Jacquemont
11 rue de l’Hôpital 97460 Saint Paul
Phone. +262 (0)2 62 35 92 48

Le Mans CH
Dr Dominique Martin-Coignard
194, avenue Rubillard 72037 Le Mans cedex 09
Phone. +33 (0)2 44 71 01 84

Nancy CHRU, Children’s hospital
Dr Laetitia Lambert
29, av. du Maréchal de Lattre de Tassigny 54035 Nancy Cedex
Phone. +33 (0)3 83 34 43 76/+33 (0)3 83 15 45 00

Lyon Civil Hospices, Woman-mother-child hospital
Dr Linda Pons
59 Boulevard Pinel 69677 Bron cedex
Phone. +33 (0)4 27 85 55 73

Clermont-Ferrand CHU, Site: Estaing
Dr Fanny Laffargue
30 place Henri Dunant -BP 69, 63003 Clermont-Ferrand Cedex
Phone. +33 (0)4 73 75 00 50

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

Rennes university hospital, Pontchaillou hospital
Pr Benoit Godey
2, rue Henri Le Guilloux 35033 Rennes Cedex 9
Phone. +33 (0)2 99 28 42 86

Besançon CHU, Saint Jacques
Pr Lionel Van Malbergem
2 place Saint-Jacques 25030 Besançon Cedex
Phone. +33 (0)3 81 21 81 87

Strasbourg HUS, Hautepierre hospital
Pr Hélène Dollfus
1, place de l’Hôpital – BP 426 – 67091 Strasbourg Cedex
Phone. +33 (0)3 88 11 67 53

Bordeaux university hospital, Pellegrin hospital
Professor Didier Lacombe
12 rue Dubernat 33404 Talence Cedex
Phone. +33 (0)5 56 79 59 81

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

2021 International Usher info symposium

The 2021 International Usher info symposium is organized as a free digital event. It is open to scientists, patients, and their family. It is scheduled as follows (registration free but mandatory) :

  • International Usher info scientific symposium : from October 6 to 8, 2021, every day from 3:00 pm to 6:30 pm (official language: English)
    The symposium is co-chaired by Prof. José-Alain Sahel and Prof. Christine Petit. It is an invitation to specialists in the field to meet and share recent scientific, therapeutic and technological advances associated with the sensory impairments of Usher syndrome. It will gather outstanding experts and actors (ENTs, ophthalmologists, residents, young scientists, students, patient associations) in the field of sensory disorders.
    > Register online
    > Submit an abstract of your scientific work
    > Visit Usher info’s professional website 
  • International Usher info patient symposium October 9, 2021 from 2:00 p.m. to 6:00 p.m. (in French with accessibility)
    The purpose of this half-day event is to inform people with Usher syndrome and their families about recent advances in scientific research on Usher syndrome.
    > Register online
    > Visit the Usher info public site

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 

0
patients followed at least once a year*
0
medical consultations*
0
day hospitalizations*
0
fully hospitalized patients*
0
patients trained in therapeutic education*
0
teleconsultation procedures*
0
ongoing reasearch projects*
0
university courses*
0
publications*

* data valid for 2021