Extensive molecular genetic survey of Taiwanese patients with amyotrophic lateral sclerosis |
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| Authors: | Bing-Wen Soong Kon-Ping Lin Yuh-Cherng Guo Chou-Ching K. Lin Pei-Chien Tsai Yi-Chu Liao Yi-Chun Lu Shuu-Jiun Wang Ching-Piao Tsai Yi-Chung Lee |
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| Affiliation: | 1. Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan;2. Department of Neurology, National Yang-Ming University School of Medicine, Taipei, Taiwan;3. Brain Research Center, National Yang-Ming University, Taipei, Taiwan;4. Department of Neurology, China Medical University Hospital, Taichung, Taiwan;5. School of Medicine, College of Medicine, China Medical University, Taichung, Taiwan;6. Department of Neurology, National Cheng Kung University Hospital, Tainan, Taiwan;g Department of Neurology, College of Medicine, National Cheng Kung University, Tainan, Taiwan;h Institute of Brain Science, National Yang-Ming University School of Medicine, Taipei, Taiwan |
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| Abstract: | Identification of genetic mutations has been of burgeoning importance in amyotrophic lateral sclerosis (ALS) in recent years. The aim of this study was to determine the frequency and spectrum of mutations in major ALS-causing genes in a Taiwanese ALS cohort of Han Chinese origin. Mutational analyses of the SOD1, TARDBP, FUS, OPTN, VCP, UBQLN2, SQSTM1, PFN1, HNRNPA1, and HNRNPA2B1 genes were carried out by direct sequencing in 161 unrelated patients with ALS, including 30 with familial ALS (FALS) and 131 with sporadic ALS (SALS). The CAG repeat size in ATXN2 and the GGGGCC repeat expansion in C9ORF72 of the patients were also investigated. Mutations were identified in 33 patients (20.5%, 33/161), including 22 with FALS and 11 with SALS. Mutations were identified most frequently in SOD1 (7.5%). Three mutations are novel, including SOD1 p.G10A, SOD1 p.D83N, and OPTN p.L494W. These findings broaden the spectrum of ALS-causing mutations and are indispensable for designing optimal strategies of mutational analysis and genetic counseling of ALS for patients of Chinese origin. |
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| Keywords: | ALS SOD1 TARDBP FUS OPTN VCP UBQLN2 SQSTM1 PFN1 HNRNPA1 ATXN2 C9ORF72 |
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