Extensive molecular genetic survey of Taiwanese patients with amyotrophic lateral sclerosis

Bing Wen Soong, Kon Ping Lin, Yuh Cherng Guo, Chou-Ching Lin, Pei Chien Tsai, Yi Chu Liao, Yi Chun Lu, Shuu Jiun Wang, Ching Piao Tsai, Yi Chung Lee

Research output: Contribution to journalArticle

30 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)2423.e1-2423.e6
JournalNeurobiology of Aging
Volume35
Issue number10
DOIs
Publication statusPublished - 2014 Jan 1

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Amyotrophic Lateral Sclerosis
Molecular Biology
Mutation
Genetic Counseling
Mutation Rate
Genes
Surveys and Questionnaires

All Science Journal Classification (ASJC) codes

  • Neuroscience(all)
  • Ageing
  • Clinical Neurology
  • Developmental Biology
  • Geriatrics and Gerontology

Cite this

Soong, Bing Wen ; Lin, Kon Ping ; Guo, Yuh Cherng ; Lin, Chou-Ching ; Tsai, Pei Chien ; Liao, Yi Chu ; Lu, Yi Chun ; Wang, Shuu Jiun ; Tsai, Ching Piao ; Lee, Yi Chung. / Extensive molecular genetic survey of Taiwanese patients with amyotrophic lateral sclerosis. In: Neurobiology of Aging. 2014 ; Vol. 35, No. 10. pp. 2423.e1-2423.e6.
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Soong, BW, Lin, KP, Guo, YC, Lin, C-C, Tsai, PC, Liao, YC, Lu, YC, Wang, SJ, Tsai, CP & Lee, YC 2014, 'Extensive molecular genetic survey of Taiwanese patients with amyotrophic lateral sclerosis', Neurobiology of Aging, vol. 35, no. 10, pp. 2423.e1-2423.e6. https://doi.org/10.1016/j.neurobiolaging.2014.05.008

Extensive molecular genetic survey of Taiwanese patients with amyotrophic lateral sclerosis. / Soong, Bing Wen; Lin, Kon Ping; Guo, Yuh Cherng; Lin, Chou-Ching; Tsai, Pei Chien; Liao, Yi Chu; Lu, Yi Chun; Wang, Shuu Jiun; Tsai, Ching Piao; Lee, Yi Chung.

In: Neurobiology of Aging, Vol. 35, No. 10, 01.01.2014, p. 2423.e1-2423.e6.

Research output: Contribution to journalArticle

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