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dc.contributor.authorRiley, Lisa G
dc.contributor.authorCowley, Mark J
dc.contributor.authorGayevskiy, Velimir
dc.contributor.authorMinoche, Andre E
dc.contributor.authorPuttick, Clare
dc.contributor.authorThorburn, David R
dc.contributor.authorRius, Rocio
dc.contributor.authorCompton, Alison G
dc.contributor.authorMenezes, Minal J
dc.contributor.authorBhattacharya, Kaustuv
dc.contributor.authorComan, David
dc.contributor.authorEllaway, Carolyn
dc.contributor.authorAlexander, Ian E
dc.contributor.authorAdams, Louisa
dc.contributor.authoret al.
dc.date.accessioned2020-09-11T05:39:06Z
dc.date.available2020-09-11T05:39:06Z
dc.date.issued2020
dc.identifier.issn1098-3600
dc.identifier.doi10.1038/s41436-020-0793-6
dc.identifier.urihttp://hdl.handle.net/10072/397406
dc.description.abstractPurpose: The utility of genome sequencing (GS) in the diagnosis of suspected pediatric mitochondrial disease (MD) was investigated. Methods: An Australian cohort of 40 pediatric patients with clinical features suggestive of MD were classified using the modified Nijmegen mitochondrial disease severity scoring into definite (17), probable (17), and possible (6) MD groups. Trio GS was performed using DNA extracted from patient and parent blood. Data were analyzed for single-nucleotide variants, indels, mitochondrial DNA variants, and structural variants. Results: A definitive MD gene molecular diagnosis was made in 15 cases and a likely MD molecular diagnosis in a further five cases. Causative mitochondrial DNA (mtDNA) variants were identified in four of these cases. Three potential novel MD genes were identified. In seven cases, causative variants were identified in known disease genes with no previous evidence of causing a primary MD. Diagnostic rates were higher in patients classified as having definite MD. Conclusion: GS efficiently identifies variants in MD genes of both nuclear and mitochondrial origin. A likely molecular diagnosis was identified in 67% of cases and a definitive molecular diagnosis achieved in 55% of cases. This study highlights the value of GS for a phenotypically and genetically heterogeneous disorder like MD.
dc.description.peerreviewedYes
dc.languageEnglish
dc.language.isoeng
dc.publisherNATURE PUBLISHING GROUP
dc.relation.ispartofpagefrom1254
dc.relation.ispartofpageto1261
dc.relation.ispartofissue7
dc.relation.ispartofjournalGenetics in Medicine
dc.relation.ispartofvolume22
dc.subject.fieldofresearchGenetics
dc.subject.fieldofresearchClinical sciences
dc.subject.fieldofresearchcode3105
dc.subject.fieldofresearchcode3202
dc.subject.keywordsScience & Technology
dc.subject.keywordsLife Sciences & Biomedicine
dc.subject.keywordsGenetics & Heredity
dc.subject.keywordsgenome sequencing
dc.subject.keywordsmitochondrial disease
dc.titleThe diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease
dc.typeJournal article
dc.type.descriptionC1 - Articles
dcterms.bibliographicCitationRiley, LG; Cowley, MJ; Gayevskiy, V; Minoche, AE; Puttick, C; Thorburn, DR; Rius, R; Compton, AG; Menezes, MJ; Bhattacharya, K; Coman, D; Ellaway, C; Alexander, IE; Adams, L; et al.; Christodoulou, J, The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease, Genetics in Medicine, 2020, 22 (7), pp. 1254-1261
dcterms.dateAccepted2020-03-24
dc.date.updated2020-09-11T05:35:31Z
gro.hasfulltextNo Full Text
gro.griffith.authorComan, Dave J.


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