About: Spectrum and Frequency of SLC26A4 Mutations Among Czech Patients with Early Hearing Loss with and without Enlarged Vestibular Aqueduct (EVA)

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About: Spectrum and Frequency of SLC26A4 Mutations Among Czech Patients with Early Hearing Loss with and without Enlarged Vestibular Aqueduct (EVA) Goto Sponge NotDistinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	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. 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. 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. 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. (en)
Title	Spectrum and Frequency of SLC26A4 Mutations Among Czech Patients with Early Hearing Loss with and without Enlarged Vestibular Aqueduct (EVA) Spectrum and Frequency of SLC26A4 Mutations Among Czech Patients with Early Hearing Loss with and without Enlarged Vestibular Aqueduct (EVA) (en)
skos:prefLabel	Spectrum and Frequency of SLC26A4 Mutations Among Czech Patients with Early Hearing Loss with and without Enlarged Vestibular Aqueduct (EVA) Spectrum and Frequency of SLC26A4 Mutations Among Czech Patients with Early Hearing Loss with and without Enlarged Vestibular Aqueduct (EVA) (en)
skos:notation	RIV/00064203:_____/10:6254!RIV11-MZ0-00064203
http://linked.open...avai/riv/aktivita	I P
http://linked.open...avai/riv/aktivity	I, P(NS9913)
http://linked.open...iv/cisloPeriodika	Part 4
http://linked.open...vai/riv/dodaniDat	2011
http://linked.open...aciTvurceVysledku	Malíková, Marcela Astl, Jaromír Kabelka, Zdeněk Seeman, Pavel Jurovčík, Michal Pourová, Radka Dvořáková, Marcela Janoušek, Petr
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Fakultní nemocnice v Motole
http://linked.open...dnocenehoVysledku	289167
http://linked.open...ai/riv/idVysledku	RIV/00064203:_____/10:6254
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Deafness; EVA; hearing loss; MLPA; Pendred; SLC26A4; genotype-phenotype correlations; pendred-syndrome; pds gene; congenital deafness; temporal bone; gjb2; identification; impairment; families; prevalence (en)
http://linked.open.../riv/klicoveSlovo	EVA impairment MLPA identification prevalence families gjb2 temporal bone Deafness Pendred SLC26A4 congenital deafness genotype-phenotype correlations pds gene pendred-syndrome hearing loss
http://linked.open...odStatuVydavatele	GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV	[81CB378396A5]
http://linked.open...i/riv/nazevZdroje	Annals of Human Genetics
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	8 (xsd:int)
http://linked.open...cetTvurcuVysledku	12 (xsd:int)
http://linked.open...vavai/riv/projekt	Molecular genetic analysis of SLC26A4 gene among Czech patients with nonsyndromic hearing loss and excluded GJB2 mutation.
http://linked.open...UplatneniVysledku	2010
http://linked.open...v/svazekPeriodika	74
http://linked.open...iv/tvurceVysledku	Astl, Jaromír Dvořáková, Marcela Kabelka, Zdeněk Seeman, Pavel Jurovčík, Michal Pourová, Radka Janoušek, Petr Raskova, D. Malíková, Marcela Bendova, O. Leonardi, E. Murgia, A.
http://linked.open...ain/vavai/riv/wos	000278914200002
issn	0003-4800
number of pages	9 (xsd:int)

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