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Clinical findings and PDS mutations in 15 patients with hearing loss and dilatation of the vestibular aqueduct

Published online by Cambridge University Press:  24 November 2006

I Courtmans ,
V Mancilla ,
C Ligny ,
P Hilbert ,
A L Mansbach  and
L Van Maldergem
I Courtmans
Affiliation:
Centre Comprendre et Parler, Brussels, Belgium
V Mancilla
Affiliation:
Centre Comprendre et Parler, Brussels, Belgium
C Ligny
Affiliation:
Centre Comprendre et Parler, Brussels, Belgium
P Hilbert
Affiliation:
Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Loverval, Belgium
A L Mansbach
Affiliation:
ENT Department, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium.
L Van Maldergem
Affiliation:
Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Loverval, Belgium
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Abstract

Following systematic skull imaging of hundred and sixty seven individuals attending a medical referral centre for the deaf in Brussels, Belgium, fifteen patients (9 per cent) aged between two and 25 years were diagnosed with dilatation of the vestibular aqueduct. Careful audiological study, with a baseline assessment then longitudinal follow up, indicated mild to profound deafness with a progressive course (i.e. an average loss of 3.3 dB per year) and frequent dizziness. Sequencing of PDS was performed in all individuals. Alterations of this gene (either homozygous, heterozygous or compound heterozygous base changes) were found in 53 per cent of patients with a large vestibular aqueduct. Four new mutations (two missense, a splice site and a four base pair insertion) were described. We were unable to confirm a correlation between homozygosity, heterozygosity and a Pendred or deafness-only phenotype.

Keywords

Vestibular AqueductSensorineural Hearing LossPDS Protein, Human genetics
Type
Main Articles
Information
The Journal of Laryngology & Otology , Volume 121 , Issue 4 , April 2007 , pp. 312 - 317
Copyright
2006 JLO (1984) Limited

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