| Literature DB >> 25681989 |
Aslıhan Özoğuz1, Özgün Uyan1, Güneş Birdal1, Ceren Iskender1, Ece Kartal1, Suna Lahut1, Özgür Ömür1, Zeynep Sena Agim1, Aslı Gündoğdu Eken1, Nesli Ece Sen1, Pınar Kavak2, Ceren Saygı1, Peter C Sapp3, Pamela Keagle3, Yeşim Parman4, Ersin Tan5, Filiz Koç6, Feza Deymeer4, Piraye Oflazer4, Haşmet Hanağası4, Hakan Gürvit4, Başar Bilgiç4, Hacer Durmuş4, Mustafa Ertaş7, Dilcan Kotan8, Mehmet Ali Akalın9, Halil Güllüoğlu10, Mehmet Zarifoğlu11, Fikret Aysal12, Nilgün Döşoğlu13, Kaya Bilguvar14, Murat Günel14, Özlem Keskin15, Tahsin Akgün16, Hilmi Özçelik17, John E Landers3, Robert H Brown3, A Nazlı Başak18.
Abstract
The 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.Entities:
Keywords: ALS; C9orf72; FUS; SOD1; TDP-43; Turkey
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Year: 2015 PMID： 25681989 PMCID： PMC6591733 DOI： 10.1016/j.neurobiolaging.2014.12.032
Source DB: PubMed Journal: Neurobiol Aging ISSN： 0197-4580 Impact factor: 4.673