DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family
The result's identifiers
Result code in 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>
Alternative codes found
RIV/00216208:11130/12:8244
Result on the web
<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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Alternative languages
Result language
angličtina
Original language name
DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family
Original language description
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
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FF - ENT (ie. ear, nose, throat), ophthalmology, dentistry
OECD FORD branch
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Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2012
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
International Journal of Pediatric Otorhinolaryngology
ISSN
0165-5876
e-ISSN
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Volume of the periodical
76
Issue of the periodical within the volume
11
Country of publishing house
NL - THE KINGDOM OF THE NETHERLANDS
Number of pages
4
Pages from-to
1681-1684
UT code for WoS article
000311463500029
EID of the result in the Scopus database
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