Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0012833 (dizziness)
 9,689 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Enlarged vestibular aqueduct (EVA) is an inner ear anomaly occasionally associated with sensorineural hearing loss (SNHL) and/or dizziness. Recent genetic studies indicate that mutations in the PDS gene may cause EVA. A 10-year-old EVA patient who had undergone annual hearing tests for 7 years had an aunt and cousin who also had hearing loss and EVA, so genetic examinations were conducted for a possible genetic link. Two new PDS gene mutations, S610X and S657N, were found in all 3, including the proband. We discuss the importance of genetic analysis, which offers new insight into SNHL diagnosis and treatment in children.
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PMID:[A case of enlarged vestibular aqueduct syndrome with PDS gene mutations]. 1190 55

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.
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PMID:Clinical findings and PDS mutations in 15 patients with hearing loss and dilatation of the vestibular aqueduct. 1712 74