Clinical and molecular characterization of BSCL2 mutations in a taiwanese cohort with hereditary neuropathy

Cheng Tsung Hsiao, Pei Chien Tsai, Chou-Ching Lin, Yo Tsen Liu, Yen Hua Huang, Yi Chu Liao, Han-Wei Huang, Kon Ping Lin, Bing Wen Soong, Yi Chung Lee

Research output: Contribution to journalArticle

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Abstract

Background: A small group of patients with inherited neuropathy that has been shown to be caused by mutations in the BSCL2 gene. However, little information is available about the role of BSCL2 mutations in inherited neuropathies in Taiwan. Methodology and Principal Findings: Utilizing targeted sequencing, 76 patients with molecularly unassigned Charcot-Marie-Tooth disease type 2 (CMT2) and 8 with distal hereditary motor neuropathy (dHMN), who were selected from 348 unrelated patients with inherited neuropathies, were screened for mutations in the coding regions of BSCL2. Two heterozygous BSCL2 mutations, p.S90L and p.R96H, were identified, of which the p.R96H mutation is novel. The p.S90L was identified in a pedigree with CMT2 while the p.R96H was identified in a patient with apparently sporadic dHMN. In vitro studies demonstrated that the p.R96H mutation results in a remarkably low seipin expression and reduced cell viability. Conclusion: BSCL2 mutations account for a small number of patients with inherited neuropathies in Taiwan. The p.R96H mutation is associated with dHMN. This study expands the molecular spectrum of BSCL2 mutations and also emphasizes the pathogenic role of BSCL2 mutations in molecularly unassigned hereditary neuropathies.

Original languageEnglish
Article numbere0147677
JournalPloS one
Volume11
Issue number1
DOIs
Publication statusPublished - 2016 Jan 1

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peripheral nervous system diseases
mutation
Mutation
tooth diseases
Charcot-Marie-Tooth Disease
Genes
Cells
Taiwan
Pedigree
pedigree
in vitro studies
cell viability
Cell Survival

All Science Journal Classification (ASJC) codes

  • Biochemistry, Genetics and Molecular Biology(all)
  • Agricultural and Biological Sciences(all)
  • General

Cite this

Hsiao, Cheng Tsung ; Tsai, Pei Chien ; Lin, Chou-Ching ; Liu, Yo Tsen ; Huang, Yen Hua ; Liao, Yi Chu ; Huang, Han-Wei ; Lin, Kon Ping ; Soong, Bing Wen ; Lee, Yi Chung. / Clinical and molecular characterization of BSCL2 mutations in a taiwanese cohort with hereditary neuropathy. In: PloS one. 2016 ; Vol. 11, No. 1.
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abstract = "Background: A small group of patients with inherited neuropathy that has been shown to be caused by mutations in the BSCL2 gene. However, little information is available about the role of BSCL2 mutations in inherited neuropathies in Taiwan. Methodology and Principal Findings: Utilizing targeted sequencing, 76 patients with molecularly unassigned Charcot-Marie-Tooth disease type 2 (CMT2) and 8 with distal hereditary motor neuropathy (dHMN), who were selected from 348 unrelated patients with inherited neuropathies, were screened for mutations in the coding regions of BSCL2. Two heterozygous BSCL2 mutations, p.S90L and p.R96H, were identified, of which the p.R96H mutation is novel. The p.S90L was identified in a pedigree with CMT2 while the p.R96H was identified in a patient with apparently sporadic dHMN. In vitro studies demonstrated that the p.R96H mutation results in a remarkably low seipin expression and reduced cell viability. Conclusion: BSCL2 mutations account for a small number of patients with inherited neuropathies in Taiwan. The p.R96H mutation is associated with dHMN. This study expands the molecular spectrum of BSCL2 mutations and also emphasizes the pathogenic role of BSCL2 mutations in molecularly unassigned hereditary neuropathies.",
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Clinical and molecular characterization of BSCL2 mutations in a taiwanese cohort with hereditary neuropathy. / Hsiao, Cheng Tsung; Tsai, Pei Chien; Lin, Chou-Ching; Liu, Yo Tsen; Huang, Yen Hua; Liao, Yi Chu; Huang, Han-Wei; Lin, Kon Ping; Soong, Bing Wen; Lee, Yi Chung.

In: PloS one, Vol. 11, No. 1, e0147677, 01.01.2016.

Research output: Contribution to journalArticle

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AU - Liao, Yi Chu

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AU - Soong, Bing Wen

AU - Lee, Yi Chung

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N2 - Background: A small group of patients with inherited neuropathy that has been shown to be caused by mutations in the BSCL2 gene. However, little information is available about the role of BSCL2 mutations in inherited neuropathies in Taiwan. Methodology and Principal Findings: Utilizing targeted sequencing, 76 patients with molecularly unassigned Charcot-Marie-Tooth disease type 2 (CMT2) and 8 with distal hereditary motor neuropathy (dHMN), who were selected from 348 unrelated patients with inherited neuropathies, were screened for mutations in the coding regions of BSCL2. Two heterozygous BSCL2 mutations, p.S90L and p.R96H, were identified, of which the p.R96H mutation is novel. The p.S90L was identified in a pedigree with CMT2 while the p.R96H was identified in a patient with apparently sporadic dHMN. In vitro studies demonstrated that the p.R96H mutation results in a remarkably low seipin expression and reduced cell viability. Conclusion: BSCL2 mutations account for a small number of patients with inherited neuropathies in Taiwan. The p.R96H mutation is associated with dHMN. This study expands the molecular spectrum of BSCL2 mutations and also emphasizes the pathogenic role of BSCL2 mutations in molecularly unassigned hereditary neuropathies.

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