Audiological and vestibular features in affected subjects with USH3: a genotype/phenotype correlation.
The aims were to compare the genotype/phenotype relationship between USH3 mutations and the consequent hearing and vestibular phenotype; and to compare hearing loss (HL) progression between Usher syndrome types IB, IIA and USH3. Genetic, audiometric and vestibular examinations were performed in 28 s...
| Publicado en: | International Journal of Audiology Vol. 44; no. 5; pp. 307 - 317 |
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| Autores principales: | , , , , |
| Formato: | equations & formulas pictorial research tables/charts Journal Article |
| Publicado: |
Taylor & Francis Ltd
May2005
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=106534620&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 106534620 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 14992027 JW2 jtl: International Journal of Audiology issn: 14992027 maglogo: Y pubinfo: dt: May2005 vid: 44 iid: 5 pid: 377 pub: Taylor & Francis Ltd place: Philadelphia, Pennsylvania artinfo: ui: 106534620 2009016803 10.1080/14992020500060610 NLM16028794 106534620 ppf: 307 ppct: 10 formats: fmt: @attributes: type: P tig: atl: Audiological and vestibular features in affected subjects with USH3: a genotype/phenotype correlation. aug: au: Sadeghi M Cohn ES Kimberling WJ Tranebjærg L Möller C affil: Department of Audiology, The Sahlgrenska Academy, Institute of Selected Clinical Sciences, Box 452, SE-405 30 Gothenburg, Sweden; mehdi.sadeghi@audiology.gu.se sug: subj: Genotype Phenotype Usher's Syndrome Symptoms Adolescence Adult Aged Analysis of Variance Auditory Threshold Evaluation Child Child, Preschool Comparative Studies Correlational Studies Descriptive Statistics Female Funding Source Male Middle Age Pedigree Post Hoc Analysis Posturography Sweden United States Vestibular Diseases Diagnosis Human Adolescent: 13-18 years Adult: 19-44 years Aged: 65+ years Child: 6-12 years Child, Preschool: 2-5 years Middle Aged: 45-64 years Female Male ab: The aims were to compare the genotype/phenotype relationship between USH3 mutations and the consequent hearing and vestibular phenotype; and to compare hearing loss (HL) progression between Usher syndrome types IB, IIA and USH3. Genetic, audiometric and vestibular examinations were performed in 28 subjects with USH3. Five different mutations in USH3 were identified. Severe HL was present from an early age (4 to 6 years) in 35% of subjects with USH3. Progression of HL begins in the first decade, and approximately 50% of subjects with USH3 become profoundly deaf by age 40. Various vestibular abnormalities were found in about half (10/22) of the tested subjects with USH3. Depending on the severity of HL, subjects with USH3 might be misdiagnosed as either Usher type IB or IIA. The results from this study can be used as discriminatory features in differential diagnosis of this syndrome. pubtype: Academic Journal doctype: equations & formulas pictorial research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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