Browsing by Author "Kartal, Ece"
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Publication The complex genetic landscape of hereditary ataxias in Turkey and implications in clinical practice(Wiley, 2021-01-15) Vural, Atay; Şimşir, Gülşah; Tekgül, Şeyma; Koçoğlu, Cemile; Akçimen, Fulya; Kartal, Ece; Şen, Nesli E.; Lahut, Suna; Ömür, Özgür; Şaner, Nazan; Gül, Tuğçe; Bayraktar, Elif; Palvadeau, Robin; Tunca, Ceren; Çetinkaya, Caroline Pirkevi; Eken, Aslı Gündoğdu; Şahbaz, Irmak; Koç, Müge Kovancılar; Çakmak, Özgür Öztop; Hanağası, Haşmet; Bilgiç, Başar; Eraksoy, Mefkure; Gündüz, Ayşegül; Apaydın, Hülya; Kızıltan, Güneş; Özekmekci, Sibel; Siva, Aksel; Altıntaş, Ayşe; Güleç, Zeynep E. Kaya; Parman, Yeşim; Oflazer, Piraye; Deymeer, Feza; Durmuş, Hacer; Şahin, Erdi; Çakar, Arman; Tüfekcioğlu, Zeynep; Tektürk, Pınar; Çorbalı, M. Osman; Tireli, Hülya; Akdal, Gülden; Yis, Uluç; Hız, Semra; Şengün, İhsan; Bora, Elçin; Serdaroğlu, Gül; Özbek, Sevda Erer; Ağan, Kadriye; Günal, Dilek İnce; Us, Önder; Kurt, Semiha G.; Aksoy, Dürdane; Tokcaer, Ayşe Bora; Elmas, Muhsin; Gültekin, Murat; Kumandaş, Sefer; Acer, Hamit; Özçora, Gül D. Kaya; Yayla, Vildan; Soysal, Aysun; Genç, Gencer; Gülluoğlu, Halil; Kotan, Dilcan; Ayas, Zeynep Özözen; Şahin, Hüseyin A.; Tan, Ersin; Topcu, Meral; Topcuoğlu, Esen Saka; Akbostancı, Cenk; Koç, Filiz; Ertan, Sibel; Elibol, Bülent; Başak, A. Nazlı; ERER ÖZBEK, ÇİĞDEM SEVDA; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Nöroloji Anabilim Dalı.; JGR-7854-2023Background 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.Publication The distinct genetic pattern of als in turkey and novel mutations(Elsevier Science, 2015-04-01) Özoğuz, Aslıhan; Uyan, Özgün; Birdal, Güneş; İskender, Ceren; Kartal, Ece; Lahut, Suna; Ömür, Özgür; Ağım, Zeynep Sena; Eken, Aslı Gündoğdu; Sen, Nesli Ece; Kavak, Pınar; Saygi, Ceren; Sapp, Peter C.; Keagle, Pamela; Parman, Yesim; Tan, Ersin; Koc, Filiz; Deymeer, Feza; Oflazer, Piraye; Hanagasi, Hasmet; Gurvit, Hakan; Bilgic, Basar; Durmus, Hacer; Ertas, Mustafa; Kotan, Dilcan; Akalin, Mehmet Ali; Gulluoglu, Halil; Zarifoglu, Mehmet; Aysal, Fikret; Dosolu, Nilgun; Bilguvar, Kaya; Gunel, Murat; Keskin, Ozlem; Akgun, Tahsin; Ozcelik, Hilmi; Landers, John E.; Brown, Robert H.; Basak, A. Nazli; ZARİFOĞLU, MEHMET; Uludağ Üniversitesi/Tıp Fakültesi/Nöroloji Anabilim Dalı.; EHN-5825-2022The frequency of amyotrophic lateral sclerosis (ALS) mutations has been extensively investigated in several populations; however, a systematic analysis in Turkish cases has not been reported so far. In this study, we screened 477 ALS patients for mutations, including 116 familial ALS patients from 82 families and 361 sporadic ALS (sALS) cases. Patients were genotyped for C9orf72 (18.3%), SOD1 (12.2%), FUS (5%), TARDBP (3.7%), and UBQLN2 (2.4%) gene mutations, which together account for approximately 40% of familial ALS in Turkey. No SOD1 mutations were detected in sALS patients; however, C9orf72 (3.1%) and UBQLN2 (0.6%) explained 3.7% of sALS in the population. Exome sequencing revealed mutations in OPTN, SPG11, DJ1, PLEKHG5, SYNE1, TRPM7, and SQSTM1 genes, many of them novel. The spectrum of mutations reflect both the distinct genetic background and the heterogeneous nature of the Turkish ALS population. (C) 2015 Elsevier Inc. All rights reserved.