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dc.contributor.authorVural, Atay
dc.contributor.authorŞimşir, Gülşah
dc.contributor.authorTekgül, Şeyma
dc.contributor.authorKoçoğlu, Cemile
dc.contributor.authorAkçimen, Fulya
dc.contributor.authorKartal, Ece
dc.contributor.authorŞen, Nesli E
dc.contributor.authorLahut, Suna
dc.contributor.authorÖmür, Özgür
dc.contributor.authorSaner, Nazan
dc.contributor.authorGül, Tuğçe
dc.contributor.authorBayraktar, Elif
dc.contributor.authorPalvadeau, Robin
dc.contributor.authorTunca, Ceren
dc.contributor.authorPirkevi Çetinkaya, Caroline
dc.contributor.authorGündoğdu Eken, Aslı
dc.contributor.authorŞahbaz, Irmak
dc.contributor.authorKovancılar Koç, Müge
dc.contributor.authorÖztop Çakmak, Özgür
dc.contributor.authorHanağası, Haşmet
dc.contributor.authorBilgiç, Başar
dc.contributor.authorEraksoy, Mefkure
dc.contributor.authorGündüz, Ayşegül
dc.contributor.authorApaydın, Hülya
dc.contributor.authorKızıltan, Güneş
dc.contributor.authorÖzekmekçi, Sibel
dc.contributor.authorSiva, Aksel
dc.contributor.authorAltıntaş, Ayşe
dc.contributor.authorKaya Güleç, Zeynep E
dc.contributor.authorParman, Yeşim
dc.contributor.authorOflazer, Piraye
dc.contributor.authorDeymeer, Feza
dc.contributor.authorDurmuş, Hacer
dc.contributor.authorŞahin, Erdi
dc.contributor.authorÇakar, Arman
dc.contributor.authorTüfekçioğlu, Zeynep
dc.contributor.authorTektürk, Pınar
dc.contributor.authorÇorbalı, M Osman
dc.contributor.authorTireli, Hülya
dc.contributor.authorAkdal, Gülden
dc.contributor.authorYiş, Uluç
dc.contributor.authorHız, Semra
dc.contributor.authorŞengün, İhsan
dc.contributor.authorBora, Elçin
dc.contributor.authorSerdaroğlu, Gül
dc.contributor.authorErer Özbek, Sevda
dc.contributor.authorAğan, Kadriye
dc.contributor.authorİnce Günal, Dilek
dc.contributor.authorUs, Önder
dc.contributor.authorKurt, Semiha G
dc.contributor.authorAksoy, Dürdane
dc.contributor.authorBora Tokçaer, Ayşe
dc.contributor.authorElmas, Muhsin
dc.contributor.authorGültekin, Murat
dc.contributor.authorKumandaş, Sefer
dc.contributor.authorAcer, Hamit
dc.contributor.authorKaya Özçora, Gül D
dc.contributor.authorYayla, Vildan
dc.contributor.authorSoysal, Aysun
dc.contributor.authorGenç, Gençer
dc.contributor.authorGüllüoğlu, Halil
dc.contributor.authorKotan, Dilcan
dc.contributor.authorÖzözen Ayas, Zeynep
dc.contributor.authorŞahin, Hüseyin A
dc.contributor.authorTan, Ersin
dc.contributor.authorTopçu, Meral
dc.contributor.authorSaka Topçuoğlu, Esen
dc.contributor.authorAkbostancı, Cenk
dc.contributor.authorKoç, Filiz
dc.contributor.authorErtan, Sibel
dc.contributor.authorElibol, Bülent
dc.contributor.authorBaşak, A Nazlı
dc.date.accessioned2022-04-27T12:34:30Z
dc.date.available2022-04-27T12:34:30Z
dc.date.issued24.02.2021en_US
dc.identifier.citationVural, A., Şimşir, G., Tekgül, Ş., Koçoğlu, C., Akcimen, F., Kartal, E., ... & Başak, A. N. (2021). The complex genetic landscape of hereditary ataxias in Turkey and implications in clinical practice. Movement Disorders, 36(7), 1676-1688.en_US
dc.identifier.issn0885-3185
dc.identifier.issn1531-8257
dc.identifier.urihttps://doi.org/10.1002/mds.28518
dc.identifier.urihttps://hdl.handle.net/20.500.12933/845
dc.description.abstractBackground: The genetic and epidemiological features of hereditary ataxias have been reported in several populations; however, Turkey is still unexplored. Due to high consanguinity, recessive ataxias are more common in Turkey than in Western European populations. Objective: To identify the prevalence and genetic structure of hereditary ataxias in the Turkish population. Methods: Our cohort consisted of 1296 index cases and 324 affected family members. Polymerase chain reaction followed by Sanger sequencing or fragment analysis were performed to screen for the trinucleotide repeat expansions in families with a dominant inheritance pattern, as well as in sporadic cases. The expansion in the frataxin (FXN) gene was tested in all autosomal recessive cases and in sporadic cases with a compatible phenotype. Whole-exome sequencing was applied to 251 probands, selected based on the family history, age of onset, and phenotype. Results: Mutations in known ataxia genes were identified in 30% of 1296 probands. Friedreich's ataxia was found to be the most common recessive ataxia in Turkey, followed by autosomal recessive spastic ataxia of Charlevoix-Saguenay. Spinocerebellar ataxia types 2 and 1 were the most common dominant ataxias. Whole-exome sequencing was performed in 251 probands with an approximate diagnostic yield of 50%. Forty-eight novel variants were found in a plethora of genes, suggesting a high heterogeneity. Variants of unknown significance were discussed in light of clinical data. Conclusion: With the large sample size recruited across the country, we consider that our results provide an accurate picture of the frequency of hereditary ataxias in Turkey. © 2021 International Parkinson and Movement Disorder Society.en_US
dc.language.isoengen_US
dc.publisherWiley-Lissen_US
dc.relation.isversionof10.1002/mds.28518en_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectAtaxiaen_US
dc.subjectGeneticsen_US
dc.subjectHeterogeneityen_US
dc.subjectWholeexome sequencingen_US
dc.subjectTurkeyen_US
dc.titleThe Complex Genetic Landscape of Hereditary Ataxias in Turkeyand Implications in Clinical Practiceen_US
dc.typearticleen_US
dc.authorid0000-0003-3222-874Xen_US
dc.authorid0000-0002-4377-1804en_US
dc.authorid0000-0001-5223-5627en_US
dc.authorid0000-0003-2055-6607en_US
dc.authorid0000-0003-0931-5247en_US
dc.authorid0000-0002-7720-455Xen_US
dc.authorid0000-0002-5626-2160en_US
dc.departmentAFSÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Ana Bilim Dalıen_US
dc.contributor.institutionauthorElmas, Muhsin
dc.identifier.volume36en_US
dc.identifier.issue7en_US
dc.identifier.startpage1676en_US
dc.identifier.endpage1688en_US
dc.relation.journalMovement Disordersen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US


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