Microarray based mutational analysis of patients with methylmalonic acidemia: Identification of 10 novel mutations

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dc.contributor.authorDündar, Halil
dc.contributor.authorÖzgül, Rıza Köksal
dc.contributor.authorGüzel-Ozantürk, Ayşegül
dc.contributor.authorDursun, Ali
dc.contributor.authorSivri, Serap
dc.contributor.authorAliefendioğlu, Didem
dc.contributor.authorTokatli, Ayşegül
dc.date.accessioned2020-06-25T18:06:32Z
dc.date.available2020-06-25T18:06:32Z
dc.date.issued2012
dc.departmentKırıkkale Üniversitesi
dc.descriptionDursun, Ali/0000-0003-1104-9902; Ozgul, Riza Koksal/0000-0002-0283-635X
dc.description.abstractMethylmalonic acidemia is an autosomal recessive metabolic disorder affecting the propionate oxidation pathway in the catabolism of several amino acids, odd-chain fatty acids, and cholesterol. Methylmalonic acidemia is characterized by elevated levels of methylmalonic acid in the blood and urine. Mutations in the MUT gene, encoding methylmalonyl-CoA mutase carries out isomerization of L-methylmalonyl-CoA to succinyl-CoA, cause methylmalonic acidemia. In this study, 30 Turkish patients diagnosed with mut methylmalonic acidemia were screened for mutations using custom designed sequencing microarrays. The study resulted in detection of 22 different mutations, 10 of which were novel: p.Q132*, p.A137G, c.753 + 1T, p.T387I, p.Q514E, p.P615L, p.D625V, c.1962_1963delTC, p.L674F, and c.2115_2116insA. The most common, p.P615T, was identified in 28.0% of patients. These results suggest that microarray based sequencing is a useful tool for the detection of mutations in MUT in patients with mut methylmalonic acidemia. (C) 2012 Elsevier Inc. All rights reserved.en_US
dc.identifier.citationclosedAccessen_US
dc.identifier.doi10.1016/j.ymgme.2012.05.014
dc.identifier.endpage423en_US
dc.identifier.issn1096-7192
dc.identifier.issn1096-7206
dc.identifier.issue4en_US
dc.identifier.pmid22727635
dc.identifier.scopus2-s2.0-84864338778
dc.identifier.scopusqualityQ2
dc.identifier.startpage419en_US
dc.identifier.urihttps://doi.org/10.1016/j.ymgme.2012.05.014
dc.identifier.urihttps://hdl.handle.net/20.500.12587/5227
dc.identifier.volume106en_US
dc.identifier.wosWOS:000307322100004
dc.identifier.wosqualityQ2
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherAcademic Press Inc Elsevier Scienceen_US
dc.relation.ispartofMolecular Genetics And Metabolism
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectMethylmalonic acidemiaen_US
dc.subjectMicroarray sequencingen_US
dc.subjectMutationen_US
dc.subjectMUTen_US
dc.titleMicroarray based mutational analysis of patients with methylmalonic acidemia: Identification of 10 novel mutationsen_US
dc.typeArticle

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