Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency

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dc.contributor.authorOstergaard, Elsebet
dc.contributor.authorDuno, Morten
dc.contributor.authorMoller, Lisbeth Birk
dc.contributor.authorKalkanoglu-Sivri, H. Serap
dc.contributor.authorDursun, Ali
dc.contributor.authorAliefendioglu, Didem
dc.contributor.authorWibrand, Flemming
dc.date.accessioned2020-06-25T18:07:44Z
dc.date.available2020-06-25T18:07:44Z
dc.date.issued2013
dc.departmentKırıkkale Üniversitesi
dc.descriptionDursun, Ali/0000-0003-1104-9902; Moller, Lisbeth/0000-0002-9524-4301
dc.description.abstractWe have investigated seven patients with the type B form of pyruvate carboxylase (PC) deficiency. Mutation analysis revealed eight mutations, all novel. In a patient with exon skipping on cDNA analysis, we identified a homozygous mutation located in a potential branch point sequence, the first possible branch point mutation in PC. Two patients were homozygous for missense mutations (with normal protein amounts on western blot analysis), and two patients were homozygous for nonsense mutations. In addition, a duplication of one base pair was found in a patient who also harboured a splice site mutation. Another splice site mutation led to the activation of a cryptic splice site, shown by cDNA analysis. All patients reported until now with at least one missense mutation have had the milder type A form of PC deficiency. We thus report for the first time two patients with homozygous missense mutations with the severe type B deficiency, clinically indistinguishable from other patients with type B form of PC deficiency. The mutations found here are novel; it is noteworthy that four Turkish patients did not have any mutations in common, despite the rarity of PC deficiency. There is thus no evidence for recurrent mutations in the Turkish or other populations.en_US
dc.identifier.citationOstergaard, E., Duno, M., Møller, L. B., Kalkanoglu-Sivri, H. S., Dursun, A., Aliefendioglu, D., Leth, H., Dahl, M., Christensen, E., & Wibrand, F. (2013). Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency. JIMD reports, 9, 1–5.en_US
dc.identifier.doi10.1007/8904_2012_173
dc.identifier.endpage5en_US
dc.identifier.isbn978-3-642-35518-9
dc.identifier.issn2192-8304
dc.identifier.pmid23430542
dc.identifier.scopus2-s2.0-85014834090
dc.identifier.scopusqualityQ2
dc.identifier.startpage1en_US
dc.identifier.urihttps://doi.org/10.1007/8904_2012_173
dc.identifier.urihttps://hdl.handle.net/20.500.12587/5650
dc.identifier.volume9en_US
dc.identifier.wosWOS:000315959000001
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherSpringer-Verlag Berlinen_US
dc.relation.ispartofJimd Reports - Case And Research Reports, 2012/6
dc.relation.ispartofseriesJIMD Reports
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.titleNovel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiencyen_US
dc.typeArticle

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