Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2

B. O. Choi, M. H. Park, K. W. Chung, H. M. Woo, H. Koo, H. K. Chung, K. G. Choi, K. D. Park, H. J. Lee, Y. S. Hyun, S. K. Koo

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24 Scopus citations


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.

Original languageEnglish
Pages (from-to)35-42
Number of pages8
Issue number1
StatePublished - Feb 2013

Bibliographical note

Funding Information:
The study funding included support by the Korea National Institute of Health intramural research program 4800-4845-302-210 (2012-N61001-00), by a grant of the National Project for Personalized Genomic Medicine, Ministry for Health and Welfare, Republic of Korea (A111218-GM07), and by the Basic Science Research Program through the National Research Foundation of Korea funded by the Ministry of Education, Science and Technology (2011–0021533).


  • BSCL2
  • Charcot-Marie-Tooth
  • Exome sequencing
  • Histopathology
  • Linkage analysis
  • Mutation


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