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Statements

Subject Item
n2:RIV%2F00064165%3A_____%2F13%3A10193391%21RIV14-MZ0-00064165
rdf:type
skos:Concept n17:Vysledek
rdfs:seeAlso
http://dx.doi.org/10.1111/cge.12085
dcterms: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 probably been 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 unfavorably skewed X-inactivation in three peripheral tissues. 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 probably been 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 unfavorably skewed X-inactivation in three peripheral tissues.
dcterms:title
Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families
skos:prefLabel
Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families
skos:notation
RIV/00064165:_____/13:10193391!RIV14-MZ0-00064165
n17:predkladatel
n18:ico%3A00064165
n3:aktivita
n9:I
n3:aktivity
I
n3:cisloPeriodika
6
n3:dodaniDat
n6:2014
n3:domaciTvurceVysledku
n7:6593259 n7:8630844 n7:9000402 n7:6270875 n7:5388074 n7:2876361 n7:8846731
n3:druhVysledku
n12:J
n3:duvernostUdaju
n19:S
n3:entitaPredkladatele
n15:predkladatel
n3:idSjednocenehoVysledku
94658
n3:idVysledku
RIV/00064165:_____/13:10193391
n3:jazykVysledku
n10:eng
n3:klicovaSlova
X-inactivation; urea cycle; ornithine carbamoyltransferase deficiency; mutation analysis; large deletion
n3:klicoveSlovo
n4:large%20deletion n4:urea%20cycle n4:mutation%20analysis n4:ornithine%20carbamoyltransferase%20deficiency n4:X-inactivation
n3:kodStatuVydavatele
US - Spojené státy americké
n3:kontrolniKodProRIV
[C6D2A9ED975A]
n3:nazevZdroje
Clinical Genetics
n3:obor
n5:EB
n3:pocetDomacichTvurcuVysledku
7
n3:pocetTvurcuVysledku
11
n3:rokUplatneniVysledku
n6:2013
n3:svazekPeriodika
84
n3:tvurceVysledku
Majer, Filip Štorkánová, Gabriela Vlášková, Hana Lukšan, Ondřej Jirsa, Milan Pešková, Karolína Dvořáková, Lenka Zeman, Jiří Stránecký, Viktor Chuzhanova, N. Hřebíček, Martin
n3:wos
000330092900006
s:issn
0009-9163
s:numberOfPages
8
n11:doi
10.1111/cge.12085