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  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.

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