DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family
Identifikátory výsledku
Kód výsledku v IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F12%3A8244" target="_blank" >RIV/00064203:_____/12:8244 - isvavai.cz</a>
Nalezeny alternativní kódy
RIV/00216208:11130/12:8244
Výsledek na webu
<a href="http://dx.doi.org/10.1016/j.ijporl.2012.08.006" target="_blank" >http://dx.doi.org/10.1016/j.ijporl.2012.08.006</a>
DOI - Digital Object Identifier
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Alternativní jazyky
Jazyk výsledku
angličtina
Název v původním jazyce
DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family
Popis výsledku v původním jazyce
Objectives: Non-syndromic hearing loss (NSHL) is a genetically heterogeneous disorder with mostly autosomal recessive inheritance. So far 40 genes and the same amount of loci with as yet unknown genes were described with autosomal recessive NSHL. Patients and methods: A consanguineous Czech family with a child with NSHL was genotyped using SNP array and homozygous regions were compared with previously reported DFNB loci. Results: GRXCR1 and ESRRB genes associated with autosomal recessive NSHL were located in two of the eight homozygous regions detected by SNP array genotyping. Mutation p.R291L in a homozygous state was found in the deaf child, the parents were heterozygous. The entire coding region of the ESRRB gene was sequenced in additional 39 patients of Czech origin with early NSHL and only two variants, p.V413I and p.P386S, were found in homozygous state, but are considered to be polymorphisms. Conclusion: Homozygosity mapping is a powerful method for identification of genes in h
Název v anglickém jazyce
DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family
Popis výsledku anglicky
Objectives: Non-syndromic hearing loss (NSHL) is a genetically heterogeneous disorder with mostly autosomal recessive inheritance. So far 40 genes and the same amount of loci with as yet unknown genes were described with autosomal recessive NSHL. Patients and methods: A consanguineous Czech family with a child with NSHL was genotyped using SNP array and homozygous regions were compared with previously reported DFNB loci. Results: GRXCR1 and ESRRB genes associated with autosomal recessive NSHL were located in two of the eight homozygous regions detected by SNP array genotyping. Mutation p.R291L in a homozygous state was found in the deaf child, the parents were heterozygous. The entire coding region of the ESRRB gene was sequenced in additional 39 patients of Czech origin with early NSHL and only two variants, p.V413I and p.P386S, were found in homozygous state, but are considered to be polymorphisms. Conclusion: Homozygosity mapping is a powerful method for identification of genes in h
Klasifikace
Druh
J<sub>x</sub> - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
CEP obor
FF - ORL, oftalmologie, stomatologie
OECD FORD obor
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Návaznosti výsledku
Projekt
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Návaznosti
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Ostatní
Rok uplatnění
2012
Kód důvěrnosti údajů
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Údaje specifické pro druh výsledku
Název periodika
International Journal of Pediatric Otorhinolaryngology
ISSN
0165-5876
e-ISSN
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Svazek periodika
76
Číslo periodika v rámci svazku
11
Stát vydavatele periodika
NL - Nizozemsko
Počet stran výsledku
4
Strana od-do
1681-1684
Kód UT WoS článku
000311463500029
EID výsledku v databázi Scopus
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