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Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA)
Radka Pourová, Petr Janoušek, Michal Jurovčík, Marcela Dvořáková, Marcela Malíková, Dagmar Rašková, Olga Bendová, Emanuela Leonardi, Alessandra Murgia, Zdenek Kabelka, Jaromír Astl, Pavel Seeman
Language English Country England, Great Britain
Document type Journal Article, Research Support, Non-U.S. Gov't
Grant support
NS9913
MZ0
CEP Register
Digital library NLK
Full text - Article
Source
NLK
Medline Complete (EBSCOhost)
from 2003-01-01 to 1 year ago
Wiley Online Library (archiv)
from 1925-01-01 to 2012-12-31
Wiley Free Content
from 1997 to 2 years ago
- MeSH
- Vestibular Aqueduct pathology MeSH
- Phenotype MeSH
- Humans MeSH
- Membrane Transport Proteins genetics MeSH
- Mutation MeSH
- Hearing Loss, Sensorineural genetics pathology MeSH
- Prevalence MeSH
- Syndrome MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Geographicals
- Czech Republic MeSH
Mutations in SLC26A4 cause Pendred syndrome (PS) - hearing loss with goitre - or DFNB4 - non-syndromic hearing loss (NSHL) with inner ear abnormalities such as Enlarged Vestibular Aqueduct (EVA) or Mondini Dysplasia (MD). We tested 303 unrelated Czech patients with early hearing loss (298 with NSHL and 5 with PS), all GJB2-negative, for SLC26A4 mutations and evaluated their clinical and radiological phenotype. Among 115 available HRCT/MRI scans we detected three MD (2.6%), three Mondini-like affections (2.6%), 16 EVA (13 bilateral - 19.2% and 15.6% respectively) and 61 EVA/MD-negative scans (73.4%). We found mutation(s) in 26 patients (8.6%) and biallelic mutations in eight patients (2.7%) out of 303 tested. In 18 of 26 (69%) patients, no second mutation could be detected even using MLPA. The spectrum of SLC26A4 mutations in Czech patients is broad without any prevalent mutation. We detected 21 different mutations (four novel). The most frequent mutations were p.Val138Phe and p.Leu445Trp (18% and 8.9% of pathogenic alleles respectively). Among 13 patients with bilateral EVA, six patients (50%) carry biallelic mutations. In EVA -negative patients no biallelic mutations were found but 4.9% had monoallelic mutations. SLC26A4 mutations are present mostly in patients with EVA/MD and/or progressive HL and those with affected siblings.
Department of Paediatrics Rare Disease Center University of Padua Padova Italy
Gennet Prague the Clinic at St Kliment Prague Czech Republic
References provided by Crossref.org
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- $a Kremlíková Pourová, Radka $7 xx0160300 $u Department of Paediatric Neurology, DNA Laboratory, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic. radka.pourova@post.cz
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