ArticleNeurogenetics2013
Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2.
Article in Neurogenetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed, 28 citations in OpenAlex.
- Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases.Brain : a journal of neurology · 2023Review
- Role of Seipin in Human Diseases and Experimental Animal Models.Biomolecules · 2022Review
- Rare among Rare: Phenotypes of Uncommon CMT Genotypes.Brain sciences · 2021Article
- Celia's Encephalopathy (Journal of clinical medicine · 2021Review
- Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant.Neurogenetics · 2019Article
- Whole Exome Sequencing Revealed a Novel GJB1 Pathogenic Variant and a Rare BSCL2 Mutation in Two Iranian Large Pedigrees with Multiple Affected Cases of Charcot-Marie-Tooth.International journal of molecular and cellular medicine · 2019Article
- Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients.Journal of molecular medicine (Berlin, Germany) · 2018Article
- The First Report of a Japanese Case of Seipinopathy with a BSCL2 N88S Mutation.Internal medicine (Tokyo, Japan) · 2018Article
- Screening forChinese medical journal · 2018Article
- Clinical diversity caused by novel IGHMBP2 variants.Journal of human genetics · 2017Article
- ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegia.Journal of neurology · 2017Article
- Clinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary Neuropathy.PloS one · 2016Article
- Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy.Neurogenetics · 2014Article
- Dynamic transcriptional events in distal sural nerve revealed by transcriptome analysis.Experimental neurobiology · 2014Article
- Exome sequencing greatly expedites the progressive research of Mendelian diseases.Frontiers of medicine · 2014Review
- Comprehensive analysis to improve the validation rate for single nucleotide variants detected by next-generation sequencing.PloS one · 2014Article
- Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family.Diagnostic pathology · 2013Article
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The objective of the study was to investigate the disease-causing mutation in an autosomal dominant Charcot-Marie-Tooth disease type 2 family and examine the clinical and histopathological evaluation. We enrolled a family of Korean origin with axonal Charcot-Marie-Tooth disease neuropathy (FC305; 13 males, six females) and applied genome-wide linkage analysis. Whole exome sequencing was performed for two patients. In addition, sural nerve biopsies were obtained from two patients. Through whole exome sequencing, we identified an average of 20,336 coding variants from two patients. We also found evidence of linkage mapped to chromosome 11p11-11q13.3 (LOD score of 3.6). Among these variants in the linkage region, we detected a novel p.S90W mutation in the Berardinelli-Seip congenital lipodystrophy 2 (BSCL2) gene, after filtering 31 Korean control exomes. Our p.S90W patients had frequent sensory disturbances, pyramidal tract signs, and predominant right thenar muscle atrophy in comparison with reported p.S90L patients. The phenotypic spectra were wide and demonstrated intrafamilial variability. Two patients with different clinical features underwent sural nerve biopsies; the myelinated fiber densities were increased slightly in both patients, which differed from two previous case reports of BSCL2 mutations (p.S90L and p.N88S). This report expands the variability of the clinical spectrum associated with the BSCL2 gene and describes the first family with the p.S90W mutation.
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