Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening

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dc.authoridOzgul, Riza Koksal -- 0000-0002-0283-635X
dc.contributor.authorKaraca, Mehmet
dc.contributor.authorÖzgül, Rıza Köksal
dc.contributor.authorÜnal, Özlem
dc.contributor.authorYücel Yılmaz, Didem
dc.contributor.authorKılıç, Mustafa
dc.contributor.authorHişmi, Burcu
dc.contributor.authorTokatlı, Ayşegül
dc.contributor.authorCoşkun, Turgay
dc.date.accessioned13.07.201910:50:10
dc.date.accessioned2019-07-29T19:28:54Z
dc.date.available13.07.201910:50:10
dc.date.available2019-07-29T19:28:54Z
dc.date.issued2015
dc.departmentSabire Yazıcı Fen Edebiyat Fakültesi
dc.description.abstractThe incidence of biotinidase deficiency in Turkey is currently one of the highest in the world. To expand upon the information about the biotinidase gene (BTD) variations in Turkish patients, we conducted a mutation screening in a large series (n = 210) of probands with biotinidase deficiency, using denaturing high-performance liquid chromatography and direct DNA sequencing. The putative effects of novel mutations were predicted by computational program. Twenty-six mutations, including six novels (p.C143F, p.T244I, c.1212-1222del11, c.1320delG, p.V457L, p.G480R) were identified. Nine of the patients were symptomatic at the initial clinical assessment with presentations of seizures, encephalopathy, and lactic acidemia. The most common mutation in this group of symptomatic patients was c.98-104 del7ins3. Among the screened patients, 72 have partial and 134 have profound biotinidase deficiency (BD) of which 106 are homozygous for BTD mutations. The common mutations (p.R157H, p.D444H, c.98-104del7ins3, p.T532M) cumulatively accounted for 72.3 % of all the mutant alleles in the Turkish population. Conclusion: The identification of common mutations and hot spot regions of the BTD gene in Turkish patients is important for mutation screening in the Turkish population and helps to ascertain carriers, may have impact on genetic counseling and implementing prevention programs.
dc.description.sponsorshipState Planning Organization of Turkey [DPT2006K1206400603]
dc.description.sponsorshipThis work was funded by a grant from State Planning Organization of Turkey (Project number: DPT2006K1206400603).
dc.identifier.doi10.1007/s00431-015-2509-5
dc.identifier.endpage1084en_US
dc.identifier.issn0340-6199
dc.identifier.issn1432-1076
dc.identifier.issue8en_US
dc.identifier.pmid25754625
dc.identifier.scopusqualityQ1
dc.identifier.startpage1077en_US
dc.identifier.urihttps://doi.org/10.1007/s00431-015-2509-5
dc.identifier.urihttps://hdl.handle.net/20.500.12451/6101
dc.identifier.volume174en_US
dc.identifier.wosWOS:000358650500011
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherSprınger
dc.relation.ispartofEuropean Journal of Pedıatrıcs
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectBD
dc.subjectBiotinidase Deficiency
dc.subjectBTD
dc.subjectGene Coding for BTD
dc.subjectNewborn Screening
dc.subjectTurkish Population
dc.titleDetection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening
dc.typeArticle

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