Clinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary Neuropathy

PloS One
Cheng-Tsung HsiaoYi-Chung Lee

Abstract

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. 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. 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.

References

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Citations

Jun 24, 2018·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Cong LuZhi-Ying Wu
Feb 29, 2020·Journal of the Peripheral Nervous System : JPNS·Satoshi IshiharaHiroshi Takashima
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Apr 4, 2017·Brain : a Journal of Neurology·Pei-Chien TsaiYi-Chung Lee
May 30, 2017·Frontiers in Molecular Neuroscience·Mansour Haidar, Vincent Timmerman
Oct 4, 2020·Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids·Vitor TeixeiraVítor Costa
May 1, 2021·Journal of Clinical Medicine·Sofía Sánchez-IglesiasDavid Araújo-Vilar
Jun 30, 2021·Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova·G E RudenskayaO P Ryzhkova

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Methods Mentioned

BETA
protein folding
exome sequencing
transfections
protein assay
PCR
transfection
fluorescence microscopy
ubiquitination

Software Mentioned

Illumina VariantStudio
Mutation Taster
SIFT
BaseSpace
Polyphen

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