Article (Scientific journals)
Clinical findings and PDS mutations in 15 patients with hearing loss and dilatation of the vestibular aqueduct
Courtmans, I.; Mancilla, V.; Ligny, C. et al.
2007In Journal of Laryngology and Otology, 121 (4), p. 312-317
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Keywords :
vestibular aqueduct; sensorineural hearing loss; PDS protein; human genetics
Abstract :
[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 :
4
Pages :
312-317
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 14 February 2011

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