High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: Molecular and clinical findings of Turkish probands

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dc.authoridOzgul, Riza Koksal -- 0000-0002-0283-635X
dc.contributor.authorKaraca, Mehmet
dc.contributor.authorHismi, Burcu
dc.contributor.authorÖzgul, Riza Koksal
dc.contributor.authorKaraca, Şefayet
dc.contributor.authorYılmaz, Didem Yücel
dc.contributor.authorCoşkun, Turgay
dc.contributor.authorSivri, Hatice Serap
dc.contributor.authorTokatlı, Ayşegül
dc.contributor.authorDursun, Ali
dc.date.accessioned13.07.201910:50:10
dc.date.accessioned2019-07-29T19:29:35Z
dc.date.available13.07.201910:50:10
dc.date.available2019-07-29T19:29:35Z
dc.date.issued2014
dc.departmentSabire Yazıcı Fen Edebiyat Fakültesi
dc.description.abstractClassical homocystinuria is the most commonly inherited disorder of sulfur metabolism, caused by the genetic alterations in human cystathionine beta-synthase (CBS) gene. In this study, we present comprehensive clinical findings and the genetic basis of homocystinuria in a cohort of Turkish patients. Excluding some CBS mutations, detailed genotype-phenotype correlation for different CBS mutations has not been established in literature. We aimed to make clinical subgroups according to main clinical symptoms and discussed these data together with mutational analysis results from our patients. Totally, 16 different mutations were identified; twelve of which had already been reported, and four are novel (p.N93Y, p.L251P, p.D281V and c.829-2A>T). The probands were classified into three major groups according to the clinical symptoms caused by these mutations. A psychomotor delay was the most common diagnostic symptom (n = 12, 46.2% neurological presentation), followed by thromboembolic events (n = 6, 23.1% vascular presentation) and lens ectopia, myopia or marfanoid features (n = 5, 19.2% connective tissue presentation). Pyridoxine responsiveness was 7.7%; however, with partial responsive probands, the ratio was 53.9%. In addition, five thrombophilic nucleotide changes including MTHFR c.677 C>T and c.1298 A>C, Factor V c.1691 G>A, Factor II c.20210 G>A, and SERPINE1 4G/5G were investigated to assess their contributions to the clinical spectrum. We suggest that the effect of these polymorphisms on clinical phenotype of CBS is not very clear since the distribution of thrombophilic polymorphisms does not differ among specific groups. This study provides molecular findings of 26 Turkish probands with homocystinuria and discusses the clinical presentations and putative effects of the CBS mutations. Crown Copyright (C) 2013 Published by Elsevier B.V. All rights reserved.
dc.description.sponsorshipState Planning Organization of Turkey [DPT2006K1206400603]
dc.description.sponsorshipThis work was supported by a grant from the State Planning Organization of Turkey (Project number: DPT2006K1206400603).
dc.identifier.doi10.1016/j.gene.2013.10.060
dc.identifier.endpage203en_US
dc.identifier.issn0378-1119
dc.identifier.issn1879-0038
dc.identifier.issue2en_US
dc.identifier.pmid24211323
dc.identifier.scopusqualityQ2
dc.identifier.startpage197en_US
dc.identifier.urihttps://doi.org/10.1016/j.gene.2013.10.060
dc.identifier.urihttps://hdl.handle.net/20.500.12451/6184
dc.identifier.volume534en_US
dc.identifier.wosWOS:000330013500010
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherElsevier Science Bv
dc.relation.ispartofGENE
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectCystathionine Beta-Synthase
dc.subjectHomocystinuria
dc.subjectMutation Analysis
dc.subjectGenotype-Phenotype Correlation
dc.titleHigh prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: Molecular and clinical findings of Turkish probands
dc.typeArticle

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