Home contents
2019
   N# 1 |
2018
   N# 1 | 2 | 3 | 4 | 5 |
2017
   N# 1 | 2 | 3 | 4 | 5 |
2016
   N# 1 | 2 | 3 | 4 | 5 |
2015
   N# 1 | 2 | 3 | 4 | 5 |
2014
   N# 1 | 2 | 3 | 4 | 5 |
2013
   N# 1 | 2 | 3 | 4 | 5 |
2012
   N# 1 | 2 | 3 | 4 | 5 |
2011
   N# 1 | 2 | 3 | 4 | 5 |
2010
   N# 1 | 2 | 3 | 4 | 5 |
2009
   N# 1 | 2 | 3 | 4 | 5 |
2008
   N# 1 | 2 | 3 | 4 | 5 |
2007
   N# 1 | 2 | 3 | 4 | 5 |
2006
   N# 1 | 2 | 3 | 4 | 5 |
2005
   N# | 1 | 2 | 3 | 4 | 5 |
2004
   N# 1 | 2 | 3 | 4 | 5 |
2003
   N# 1 | 2 | 3 | 4 | 5 |
2002
   N# 1 | 2 | 3 | 4 | 5 |
2001
   N# 1 | 2 | 3 | 4 | 5 |
2000
   N# | 1 | 2 | 3 | 4 | 5 |
1999
   N# 1 | 2 | 3 | 4 | 5 |
1998
   N# 1 | 2 | 3 | 5 |
1997
   N# 1 | 2 | 3 | 4 | 5 |
1996
   N# 4 | 5 |

Click on the number of the review to see the content
Teaching bulletin CME
List of all teaching bulletins CME.
Editor reading committee
Editor reading committee.
To publish...
Instructions for authors
Archives Press and Books
Select of books and press articles.
Mailing list
News information letter.
Subscription prices


If you wish to adjust the size of the displayed characters, click in the high menu on "Your account" and choose the desired size.



  Contents > Previous page > Article detail print Order
o Issue N# 3 - 2012 o

OTOLOGY

Genotype – phenotype correlations’ limits in neuro­sensoral hearing loss: Case report of a three-year-old child associating a bilateral cochleovestibular impair­ment and a molecular variant of the COCH gene


Authors : Montava M, Roman S, Sigaudy S, Marlin S, Nicollas R, Triglia J-M. (Marseille)

Ref. : Rev Laryngol Otol Rhinol. 2012;133,3:151-156.

Article published in french
Downloadable PDF document french



Summary : Mutations of the COCH gene inherited in an autosomal dominant mode are responsible for late-onset cochleovestibular impairment on both sides. Our objective is to report the youngest patient (3 years) associating a molecular variant of the COCH gene and a cochleovestibular impairment on both sides. The clinical sequence has started with a vestibular dys­func­tion in a two-year-old child: recurrent rotatory dizziness during 12 months. At the age of 3, a sensorineural hearing loss on both sides has occured associated with spontaneous varia­tion during 6 months. The lack of mutation of the connexin 26, connexin 30 and pendrin genes has reorientated the genetic investigation. A molecular variant of the COCH gene was found in the vWFA2 domain. It was an in-frame deletion predic­ting the synthesis of an abnormal protein in which 21 amino-acid were missing. Others family members with mutation were asymptomatics. In this isolated case report, the study was in favor of a non pathogenic molecular variant of the COCH gene. For all that, mutations of the COCH gene could be sear­ched in progressive cochleovestibular dysfunctions on both sides in children, even without family affect.

Price : 8.50 €      order
|


Subscribe online - Pay by credit card!


© Copyright 1999-2024 - Revue de Laryngologie   Réalisation - Hébergement ELIDEE