Analysis of the sphingomyelin phosphodiesterase 1 gene (SMPD1) in Turkish Niemann-Pick disease patients: Mutation profile and description of a novel mutation

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dc.contributor.authorAykut, A.
dc.contributor.authorKaraca, E.
dc.contributor.authorOnay, H.
dc.contributor.authorUcar, S. Kalkan
dc.contributor.authorCoker, M.
dc.contributor.authorCogulu, O.
dc.contributor.authorÖzkınay, Ferda
dc.date.accessioned2019-10-27T22:08:15Z
dc.date.available2019-10-27T22:08:15Z
dc.date.issued2013
dc.departmentEge Üniversitesien_US
dc.description.abstractNiemann-Pick disease (NPD) is a lysosomal storage disorder that results from the deficiency of a lysosomal enzyme, acid sphingomyelinase. Niemann-Pick disease type A and B is caused by mutations in the sphingomyelin phosphodiesterase gene (SMPD1) coding for ASM. The aim of this study was to evaluate the spectrum of SMPD1 gene mutations in Turkish NPD patients and to study genotype-phenotype associations. We present a molecular analysis of 10 Turkish NPD type A/B patients. Four of the patients had type A and six had type B NPD. All mutant SMPD1 alleles were identified, including 5 different mutations, 1 of which was novel. These mutations included three missense mutations: c.409T>C (p.L137P), c.1262 A>G (p.H421R) and c.1552T>C (p.L549P), a common frameshift mutation in codon 189, identified in three patients, is caused by the deletion of the 567T, introducing a stop codon 65 amino acids downstream (p.P189fsX65), and a novel frameshift mutation c.1755delC (p.P585PfsX24) which was not reported previously. (C) 2013 Published by Elsevier B.V.en_US
dc.identifier.doi10.1016/j.gene.2013.03.116en_US
dc.identifier.endpage486en_US
dc.identifier.issn0378-1119
dc.identifier.issue2en_US
dc.identifier.pmid23618813en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage484en_US
dc.identifier.urihttps://doi.org/10.1016/j.gene.2013.03.116
dc.identifier.urihttps://hdl.handle.net/11454/49152
dc.identifier.volume526en_US
dc.identifier.wosWOS:000323396500060en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherElsevier Science Bven_US
dc.relation.ispartofGeneen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectNiemann-Pick diseaseen_US
dc.subjectSMPD1 geneen_US
dc.subjectTurkish populationen_US
dc.subjectNovel mutationen_US
dc.titleAnalysis of the sphingomyelin phosphodiesterase 1 gene (SMPD1) in Turkish Niemann-Pick disease patients: Mutation profile and description of a novel mutationen_US
dc.typeArticleen_US

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