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Statements

Subject Item
n2:RIV%2F00216208%3A11110%2F14%3A10283207%21RIV15-MSM-11110___
rdf:type
n14:Vysledek skos:Concept
rdfs:seeAlso
http://dx.doi.org/10.1038/ejhg.2013.148
dcterms:description
Mitochondrial disorders are caused by defects in mitochondrial or nuclear DNA. Although the existence of large deletions in mitochondrial DNA (mtDNA) is well known, deletions affecting whole genes are not commonly described in patients with mitochondrial disorders. Based on the results of whole-genome analyses, copy number variations (CNVs) occur frequently in the human genome and may overlap with many genes associated with clinical phenotypes. We report the discovery of two large heterozygous CNVs on 22q13.33 in two patients with mitochondrial disorders. The first patient harboured a novel point mutation c.667G>A (p.D223N) in the SCO2 gene in combination with a paternally inherited 87-kb deletion. As hypertrophic cardiomyopathy (HCMP) was not documented in the patient, this observation prompted us to compare his clinical features with all 44 reported SCO2 patients in the literature. Surprisingly, the review shows that HCMP was present in only about 50% of the SCO2 patients with non-neonatal onset. In the second patient, who had mitochondrial neurogastrointestinal encephalopathy (MNGIE), a maternally inherited 175-kb deletion and the paternally inherited point mutation c.261G>T (p.E87D) in the TYMP gene were identified. Mitochondrial disorders are caused by defects in mitochondrial or nuclear DNA. Although the existence of large deletions in mitochondrial DNA (mtDNA) is well known, deletions affecting whole genes are not commonly described in patients with mitochondrial disorders. Based on the results of whole-genome analyses, copy number variations (CNVs) occur frequently in the human genome and may overlap with many genes associated with clinical phenotypes. We report the discovery of two large heterozygous CNVs on 22q13.33 in two patients with mitochondrial disorders. The first patient harboured a novel point mutation c.667G>A (p.D223N) in the SCO2 gene in combination with a paternally inherited 87-kb deletion. As hypertrophic cardiomyopathy (HCMP) was not documented in the patient, this observation prompted us to compare his clinical features with all 44 reported SCO2 patients in the literature. Surprisingly, the review shows that HCMP was present in only about 50% of the SCO2 patients with non-neonatal onset. In the second patient, who had mitochondrial neurogastrointestinal encephalopathy (MNGIE), a maternally inherited 175-kb deletion and the paternally inherited point mutation c.261G>T (p.E87D) in the TYMP gene were identified.
dcterms:title
Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders
skos:prefLabel
Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders
skos:notation
RIV/00216208:11110/14:10283207!RIV15-MSM-11110___
n6:aktivita
n12:S n12:I
n6:aktivity
I, S
n6:cisloPeriodika
3
n6:dodaniDat
n15:2015
n6:domaciTvurceVysledku
n9:8630844 n9:7191731 n9:5315263 n9:5990823 n9:4540344 n9:1045261 n9:6270875 n9:5734657
n6:druhVysledku
n13:J
n6:duvernostUdaju
n7:S
n6:entitaPredkladatele
n10:predkladatel
n6:idSjednocenehoVysledku
25656
n6:idVysledku
RIV/00216208:11110/14:10283207
n6:jazykVysledku
n16:eng
n6:klicovaSlova
cytochrome c oxidase deficiency; mitochondrial disorders; SCO2; TYMP; CNVs
n6:klicoveSlovo
n8:SCO2 n8:mitochondrial%20disorders n8:TYMP n8:CNVs n8:cytochrome%20c%20oxidase%20deficiency
n6:kodStatuVydavatele
GB - Spojené království Velké Británie a Severního Irska
n6:kontrolniKodProRIV
[07510A86A2C1]
n6:nazevZdroje
European Journal of Human Genetics
n6:obor
n19:EB
n6:pocetDomacichTvurcuVysledku
8
n6:pocetTvurcuVysledku
10
n6:rokUplatneniVysledku
n15:2014
n6:svazekPeriodika
22
n6:tvurceVysledku
Vondráčková, Alžběta Vinšová, Kamila Kučerová Vidrová, Vendula Honzík, Tomáš Tesařová, Markéta Stránecký, Viktor Zeman, Jiří Kratochvílová, Hana Veselá, Kateřina Hansíková, Hana
n6:wos
000331393700028
s:issn
1018-4813
s:numberOfPages
4
n18:doi
10.1038/ejhg.2013.148
n11:organizacniJednotka
11110