High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F12%3A12190" target="_blank" >RIV/00216208:11110/12:12190 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/12:12190
Result on the web
<a href="http://dx.doi.org/10.1038/jhg.2012.49" target="_blank" >http://dx.doi.org/10.1038/jhg.2012.49</a>
DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency
Original language description
Cytochrome-c oxidase (COX) deficiency is one of the common childhood mitochondrial disorders. Mutations in genes for the assembly factors SURF1 and SCO2 are prevalent in children with COX deficiency in the Slavonic population. Molecular diagnosis is difficult because of the number of genes involved in COX biogenesis and assembly. The aim of this study was to screen for mutations in 15 nuclear genes that encode the 10 structural subunits, their isoforms and two assembly factors of COX in 60 unrelated Czech children with COX deficiency. Nine novel variants were identified in exons and adjacent intronic regions of COX412, COX6A1, COX6A2, COX7A1, COX7A2 and COX10 using high-resolution melting (HRM) analysis. Online bioinformatics servers were used to predict the importance of the newly identified amino-acid substitutions. The newly characterized variants updated the contemporary spectrum of known genetic sequence variations that are present in the Czech population, which will be important
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
EB - Genetics and molecular biology
OECD FORD branch
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Result continuities
Project
<a href="/en/project/NS10581" target="_blank" >NS10581: Genetic bases of cytochrome c oxidase deficiency</a><br>
Continuities
S - Specificky vyzkum na vysokych skolach
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
Journal of Human Genetics
ISSN
1434-5161
e-ISSN
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Volume of the periodical
57
Issue of the periodical within the volume
7
Country of publishing house
JP - JAPAN
Number of pages
7
Pages from-to
442-448
UT code for WoS article
000306739900008
EID of the result in the Scopus database
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