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

[en] 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.

Disciplines :

Otolaryngology

Author, co-author :

Courtmans, I.

Mancilla, V.

Ligny, C.

Hilbert, P.

Mansbacht, A. L.

Van Maldergem, Lionel ; Centre Hospitalier Universitaire de Liège - CHU > Génétique

Language :

English

Title :

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

Publication date :

April 2007

Journal title :

Journal of Laryngology and Otology

ISSN :

0022-2151

eISSN :

1748-5460

Publisher :

Cambridge Univ Press, Cambridge, United Kingdom

Volume :

121

Issue :

Pages :

312-317

Peer reviewed :

Peer Reviewed verified by ORBi

Available on ORBi :

since 14 February 2011

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Bibliography

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