About: DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population

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About: DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population Goto Sponge NotDistinct Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
rdfs:seeAlso	http://dx.doi.org/10.1111/j.1399-0004.2011.01817.x
Description	Due to endogamy, the Roma have a higher risk for autosomal recessive (AR) disorders. We used homozygosity mapping on single-nucleotide polymorphism chips in one Czech Roma consanguineous family with non-syndromic hearing loss (NSHL). The second largest homozygous region in a deaf patient was mapped to the previously reported DFNB49 region. The MARVELD2 gene was recently reported as a causal gene for NSHL DFNB49. Sequencing of the MARVELD2 gene revealed a previously reported homozygous mutation c.1331+2 T>C (IVS4 + 2 T>C) in the deaf child. Subsequently, the same mutation was found in two more Roma families from an additional 19 unrelated Czech Roma patients with deafness tested for the MARVELD2 gene. To explore the importance of MARVELD2 mutations and DFNB49 for the general Czech and Central European population with early hearing loss we also tested 40 unrelated Czech patients with AR NSHL. No pathogenic mutation in the MARVELD2 gene was found in a group of 40 Czech non-Roma patients. Mutations in the MARVELD2 gene seem to be a significant cause of early NSHL in Czech Roma and this gene should be tested in this group of patients after GJB2. Due to endogamy, the Roma have a higher risk for autosomal recessive (AR) disorders. We used homozygosity mapping on single-nucleotide polymorphism chips in one Czech Roma consanguineous family with non-syndromic hearing loss (NSHL). The second largest homozygous region in a deaf patient was mapped to the previously reported DFNB49 region. The MARVELD2 gene was recently reported as a causal gene for NSHL DFNB49. Sequencing of the MARVELD2 gene revealed a previously reported homozygous mutation c.1331+2 T>C (IVS4 + 2 T>C) in the deaf child. Subsequently, the same mutation was found in two more Roma families from an additional 19 unrelated Czech Roma patients with deafness tested for the MARVELD2 gene. To explore the importance of MARVELD2 mutations and DFNB49 for the general Czech and Central European population with early hearing loss we also tested 40 unrelated Czech patients with AR NSHL. No pathogenic mutation in the MARVELD2 gene was found in a group of 40 Czech non-Roma patients. Mutations in the MARVELD2 gene seem to be a significant cause of early NSHL in Czech Roma and this gene should be tested in this group of patients after GJB2. (en)
Title	DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population (en)
skos:prefLabel	DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population (en)
skos:notation	RIV/00064203:_____/12:8243!RIV13-MZ0-00064203
http://linked.open...avai/predkladatel	Fakultní nemocnice v Motole
http://linked.open...avai/riv/aktivita	I P
http://linked.open...avai/riv/aktivity	I, P(NS10552)
http://linked.open...iv/cisloPeriodika	6
http://linked.open...vai/riv/dodaniDat	2013
http://linked.open...aciTvurceVysledku	Seeman, Pavel Myška, Petr Brožková, Dana
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	130901
http://linked.open...ai/riv/idVysledku	RIV/00064203:_____/12:8243
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	deafness; DFNB49; homozygosity mapping; MARVELD2; non-syndromic hearing loss; Roma; hearing impairment; w24x mutation; gypsies; gjb2; neuropathy (en)
http://linked.open.../riv/klicoveSlovo	deafness DFNB49 MARVELD2 gjb2 gypsies homozygosity mapping non-syndromic hearing loss w24x mutation Roma hearing impairment neuropathy
http://linked.open...odStatuVydavatele	DK - Dánské království
http://linked.open...ontrolniKodProRIV	[08E0BDF9613C]
http://linked.open...i/riv/nazevZdroje	Clinical Genetics
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	3 (xsd:int)
http://linked.open...cetTvurcuVysledku	7 (xsd:int)
http://linked.open...vavai/riv/projekt	Analysis of the BSCL 2 gene and a clinical study among Czech patients with hereditary motor neuropathy.
http://linked.open...UplatneniVysledku	2012
http://linked.open...v/svazekPeriodika	82
http://linked.open...iv/tvurceVysledku	Seeman, Pavel Brožková, Dana Krutova, M. Lastuvkova, J. Myška, Petr Stepankova, H. Trkova, M.
http://linked.open...ain/vavai/riv/wos	000310728700015
issn	0009-9163
number of pages	4 (xsd:int)
is http://linked.open...avai/riv/vysledek of	DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population

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