Published January 1, 2015
| Version v1
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The distinct genetic pattern of ALS in Turkey and novel mutations
Creators
- Ozoguz, Aslihan1
- Uyan, Ozgun1
- Birdal, Gunes1
- Iskender, Ceren1
- Kartal, Ece1
- Lahut, Suna1
- Omur, Ozgur1
- Agim, Zeynep Sena1
- Eken, Asli Gundogdu1
- Sen, Nesli Ece1
- Kavak, Pinar
- Saygi, Ceren1
- Sapp, Peter C.2
- Keagle, Pamela
- Parman, Yesim3
- Tan, Ersin4
- Koc, Filiz5
- Deymeer, Feza3
- Oflazer, Piraye3
- Hanagasi, Hasmet3
- Hanagasi, Hasmet3
- 1. Bogazici Univ, Neurodegenerat Res Lab NDAL, Suna & Inan Kirac Fdn, Mol Biol & Genet Dept, TR-34342 Istanbul, Turkey
- 2. Univ Massachusetts, Sch Med, Dept Neurol, Worcester, MA 01605 USA
- 3. Istanbul Univ, Istanbul Med Sch, Dept Neurol, Istanbul, Turkey
- 4. Hacettepe Univ, Sch Med, Dept Neurol, Ankara, Turkey
- 5. Cukurova Univ, Sch Med, Dept Neurol, Adana, Turkey
Description
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. (C) 2015 Elsevier Inc. All rights reserved.
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