Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F13%3A10193391" target="_blank" >RIV/00216208:11110/13:10193391 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/13:10193391
Result on the web
<a href="http://dx.doi.org/10.1111/cge.12085" target="_blank" >http://dx.doi.org/10.1111/cge.12085</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1111/cge.12085" target="_blank" >10.1111/cge.12085</a>
Alternative languages
Result language
angličtina
Original language name
Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families
Original language description
Ornithine carbamoyltransferase deficiency is the most common inherited defect of the urea cycle. We examined 28 male and 9 female patients from 29 families and identified 25 distinct mutations in OTC, 14 of which were novel. Three novel missense mutations (p.Ala102Pro, p.Pro158Ser, p.Lys210Glu) and a novel deletion of the Leu43 are not directly involved either in the enzyme active site or in the intersubunit interactions; however, the mutations include conserved residues involved in intramolecular interaction network essential for the function of the enzyme.Three novel large deletions - a 444 kb deletion affecting RPGR, OTC and TSPAN7, a 10 kb-deletion encompassing OTC exons 5 and 6 and a 24.5 kb-deletion encompassing OTC exons 9 and 10 - have probablybeen initiated by double strand breaks at recombination-promoting motifs with subsequent non-homologous end joining repair. Finally, we present a manifesting heterozygote carrying a hypomorphic mutation p.Arg129His in combination with un
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
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2013
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Clinical Genetics
ISSN
0009-9163
e-ISSN
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Volume of the periodical
84
Issue of the periodical within the volume
6
Country of publishing house
US - UNITED STATES
Number of pages
8
Pages from-to
552-559
UT code for WoS article
000330092900006
EID of the result in the Scopus database
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