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Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes

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dc.contributor.author Shamseldin, Hanan E
dc.contributor.author Alshammari, Muneera
dc.contributor.author Al-Sheddi, Tarfa
dc.contributor.author Salih, Mustafa A
dc.contributor.author Alkhalidi, Hisham
dc.contributor.author Kentab, Amal
dc.contributor.author Repetto, Gabriela
dc.contributor.author Hashem, Mais
dc.contributor.author Alkuraya, Fowzan S
dc.date.accessioned 2017-05-26T14:42:23Z
dc.date.available 2017-05-26T14:42:23Z
dc.date.issued 2012
dc.identifier.citation J Med Genet. 2012 Apr;49(4):234-41. es_CL
dc.identifier.uri http://dx.doi.org/10.1136/jmedgenet-2012-100836 es_CL
dc.identifier.uri http://hdl.handle.net/11447/1343
dc.description Centro de Genética y Genómica es_CL
dc.description.abstract OBJECTIVE: To investigate the utility of autozygome analysis and exome sequencing in a cohort of patients with suspected or confirmed mitochondrial encephalomyopathy. METHODS: Autozygome was used to highlight candidate genes for direct sequencing in 10 probands, all born to consanguineous parents. Autozygome was also used to filter the variants from exome sequencing of four probands. RESULTS: In addition to revealing mutations in known mitochondrial genes, the analysis revealed the identification of two novel candidate disease genes: MFF and FARS2, encoding the mitochondrial fission factor and phenylalanyl-tRNA synthetase, respectively. INTERPRETATION: These findings expand the repertoire of genes that are mutated in patients with mitochondrial disorders and highlight the value of integrating genomic approaches in the evaluation of these patients. es_CL
dc.format.extent 8 es_CL
dc.language.iso en_US es_CL
dc.publisher BMJ Publishing Group es_CL
dc.subject Genomics es_CL
dc.subject Mitochondrial Diseases/genetics es_CL
dc.subject Brain/pathology es_CL
dc.subject Humans es_CL
dc.subject Mutation es_CL
dc.subject Membrane Proteins/genetics es_CL
dc.title Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes es_CL
dc.type Artículo es_CL


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