Genetic Deafness ENG

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.

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.

The RCGD is affiliated to the french rare diseases « filière » SENSGENE (coordinated by Pr Hélène Dollfus, CHU Strasbourg) and the European reference network (ERN) Cranio, in which Sandrine Marlin coordinates the Genetic deafness european network.

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Sandrine Marlin
MD

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Phone + 33 1 44 49 57 44
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While booking an appointment, please be sure to mention the name of Sandrine Marlin. 

Contact information

Necker-Enfants malades university Hospital
Genetic medical unit

149 rue de Sèvres
75743 PARIS Cedex 15

Press review

LE MONDE SCIENCE ET TECHNO
Sandrine Marlin dialogue avec les sourds

  • Surdités isolées génétiques de transmission récessive
  • Surdités isolées génétiques de transmission dominante
  • Surdités isolées génétiques liées au chromosome X
  • Surdités isolées génétiques mitochondriales
  • Neuropathies auditives isolées
  • Neuropathies auditives syndromiques
  • Waardenburg syndrome
  • Usher syndrome
  • Pendred syndrome
  • Branchio-oto-renal syndrome
  • Stickler syndrome
  • Noonan syndrome
  • H syndrome
  • 22q11.2 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

Dr Sandrine Marlin, chimical geneticist – Chair

Dr Laurence Jonard, biologist

Eva Leite Freire, secretary

Mélodie Perez, psychologist

Souad Gherbi, genetic counselor

Fabienne Saint Jalmes, nurse

Inès Ben Aissa, mission head Sensgene

Délétion 22q11 (2016)

Rasopathies (Syndrome de Noonan et apparentées) (2016)

Syndrome de Pendred (en cours)

Aplasie de l’oreille (en cours)

Trisomie 21 (en cours)

« Light4deaf : Etude d’histoire naturelle du syndrome de Usher dans une cohorte de patients suivis longitudinalement pendant 5 ans »

Etude génétique des malformations isolées des nerfs cochléaires

Déterminants psychosociaux de l’impact du handicap de surdicécité sur l’autonomie au sein du parcours de vie

Marlin, F. Denoyelle, « Surdités d’origine génétique », EMC Oto-Rhinologie-Laryngologie, 06.2016. Ed Elsevier Masson

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. « An application of NGS for Molecular Investigations in Perrault Syndrome : Study of 14 families and review of the literature ». Hum Mutat. 2016 Dec; 37(12): 1354-1362.

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. « EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state ». Hum Mutat. 2017 May ; 38(5):581-593.

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. “FDXR Mutations cause sensorial neuropathies and expand the spectrum of mitochondrial Fe-S-Synthesis diseases. Am J Hum Genet. 2017 Oct 5; 101(4):630-637.

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. « Mutations in TUBB4B cause a distinctive sensorineural disease. Am J Hum Genet. 2017 Dec. 7 ; 101(6) : 1006-1012.

The reference center for genetic deafness of Necker hospital in brief 

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patients followed at least once a year*
0
medical consultations*
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medical school teaching lessons hours/year*
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ongoing reasearch projects*

* data valid for 2018